Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523336_131523338delinsCCT , CM000671.2:g.131523336_131523338delinsCCT	GRCh38
NC_000009.11:g.134398723_134398725delinsCCT , CM000671.1:g.134398723_134398725delinsCCT	GRCh37
NC_000009.10:g.133388544_133388546delinsCCT	NCBI36
NG_008896.1:g.25435_25437delinsCCT
NG_008896.2:g.25435_25437delinsCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.230_232delinsCCT	ENSP00000343034.7:n.230_232delinsCCT
ENST00000404875.7:n.2948_2950delinsCCT
ENST00000677295.2:c.2752_2754delinsCCT	ENSP00000504346.2:n.2752_2754delinsCCT
ENST00000678264.2:c.2591_2593delinsCCT	ENSP00000503157.2:n.2591_2593delinsCCT
ENST00000682070.1:n.2718_2720delinsCCT
ENST00000682639.1:c.240-127_240-125delinsCCT
ENST00000682813.1:n.2805_2807delinsCCT
ENST00000683231.1:c.258_260delinsCCT
ENST00000683392.1:n.5000_5002delinsCCT
ENST00000683900.1:n.4308_4310delinsCCT
ENST00000684062.1:n.3074_3076delinsCCT
ENST00000684399.1:c.240-17_240-15delinsCCT
ENST00000684579.1:n.4254_4256delinsCCT
ENST00000341012.12:c.230_232delinsCCT	ENSP00000343034.7:n.230_232delinsCCT
ENST00000372220.5:c.230_232delinsCCT	ENSP00000361294.5:n.230_232delinsCCT
ENST00000372228.9:c.230_232delinsCCT	ENSP00000361302.3:n.230_232delinsCCT
ENST00000402686.8:c.230_232delinsCCT MANE Select	ENSP00000385797.4:n.230_232delinsCCT
ENST00000676640.1:c.230_232delinsCCT	ENSP00000503281.1:n.230_232delinsCCT
ENST00000676803.1:c.230_232delinsCCT	ENSP00000503093.1:n.230_232delinsCCT
ENST00000676835.1:c.1623_1625delinsCCT	ENSP00000502911.1:n.1623_1625delinsCCT
ENST00000677029.1:c.230_232delinsCCT	ENSP00000502936.1:n.230_232delinsCCT
ENST00000677099.1:c.2118_2120delinsCCT	ENSP00000504553.1:n.2118_2120delinsCCT
ENST00000677216.1:c.230_232delinsCCT	ENSP00000503772.1:n.230_232delinsCCT
ENST00000677295.1:c.1630_1632delinsCCT	ENSP00000504346.1:n.1630_1632delinsCCT
ENST00000677444.1:c.2353_2355delinsCCT
ENST00000677626.1:c.230_232delinsCCT	ENSP00000503552.1:n.230_232delinsCCT
ENST00000677853.1:c.1416_1418delinsCCT	ENSP00000503488.1:n.1416_1418delinsCCT
ENST00000678303.1:c.230_232delinsCCT	ENSP00000503696.1:n.230_232delinsCCT
ENST00000678366.1:c.2657_2659delinsCCT	ENSP00000504353.1:n.2657_2659delinsCCT
ENST00000678546.1:c.2353_2355delinsCCT	ENSP00000503062.1:n.2353_2355delinsCCT
ENST00000678548.1:c.2547_2549delinsCCT	ENSP00000503934.1:n.2547_2549delinsCCT
ENST00000678626.1:n.2244_2246delinsCCT
ENST00000678739.1:c.2574_2576delinsCCT	ENSP00000503806.1:n.2574_2576delinsCCT
ENST00000678833.1:c.2160_2162delinsCCT	ENSP00000503893.1:n.2160_2162delinsCCT
ENST00000679023.1:c.65-11_65-9delinsCCT	ENSP00000503718.1:n.65-11_65-9delinsCCT
ENST00000679076.1:c.2027_2029delinsCCT
ENST00000679111.1:c.1164_1166delinsCCT	ENSP00000504257.1:n.1164_1166delinsCCT
ENST00000341012.11:c.230_232delinsCCT	ENSP00000343034.7:n.230_232delinsCCT
ENST00000372220.4:c.1271_1273delinsCCT	ENSP00000361294.4:n.1271_1273delinsCCT
ENST00000372228.7:c.230_232delinsCCT	ENSP00000361302.3:n.230_232delinsCCT
ENST00000402686.7:c.230_232delinsCCT	ENSP00000385797.3:n.230_232delinsCCT
ENST00000404875.6:c.230_232delinsCCT	ENSP00000384531.2:n.230_232delinsCCT
ENST00000423007.5:c.230_232delinsCCT	ENSP00000404119.1:n.230_232delinsCCT
ENST00000485278.5:n.2958_2960delinsCCT
NM_001077365.1:c.230_232delinsCCT	NP_001070833.1:n.230_232delinsCCT
NM_001077366.1:c.230_232delinsCCT	NP_001070834.1:n.230_232delinsCCT
NM_001136113.1:c.230_232delinsCCT	NP_001129585.1:n.230_232delinsCCT
NM_001136114.1:c.230_232delinsCCT	NP_001129586.1:n.230_232delinsCCT
NM_007171.3:c.230_232delinsCCT	NP_009102.3:n.230_232delinsCCT
XM_005272156.1:c.230_232delinsCCT	XP_005272213.1:n.230_232delinsCCT
XM_005272158.1:c.230_232delinsCCT	XP_005272215.1:n.230_232delinsCCT
XM_005272159.1:c.230_232delinsCCT	XP_005272216.1:n.230_232delinsCCT
XM_005272162.1:c.230_232delinsCCT	XP_005272219.1:n.230_232delinsCCT
XM_006716932.1:c.230_232delinsCCT	XP_006716995.1:n.230_232delinsCCT
XM_011518140.1:c.230_232delinsCCT	XP_011516442.1:n.230_232delinsCCT
XM_011518141.1:c.230_232delinsCCT	XP_011516443.1:n.230_232delinsCCT
XM_011518142.1:c.230_232delinsCCT	XP_011516444.1:n.230_232delinsCCT
XM_011518143.1:c.230_232delinsCCT	XP_011516445.1:n.230_232delinsCCT
XM_011518145.1:c.230_232delinsCCT	XP_011516447.1:n.230_232delinsCCT
XM_011518147.1:c.230_232delinsCCT	XP_011516449.1:n.230_232delinsCCT
XR_929703.1:n.2485-11_2485-9delinsCCT
NM_001353193.1:c.230_232delinsCCT	NP_001340122.1:n.230_232delinsCCT
NM_001353194.1:c.230_232delinsCCT	NP_001340123.1:n.230_232delinsCCT
NM_001353195.1:c.230_232delinsCCT	NP_001340124.1:n.230_232delinsCCT
NM_001353196.1:c.230_232delinsCCT	NP_001340125.1:n.230_232delinsCCT
NM_001353197.1:c.230_232delinsCCT	NP_001340126.1:n.230_232delinsCCT
NM_001353198.1:c.230_232delinsCCT	NP_001340127.1:n.230_232delinsCCT
NM_001353199.1:c.230_232delinsCCT	NP_001340128.1:n.230_232delinsCCT
NM_001353200.1:c.230_232delinsCCT	NP_001340129.1:n.230_232delinsCCT
NR_148391.1:n.2293-11_2293-9delinsCCT
NR_148392.1:n.2511-11_2511-9delinsCCT
NR_148393.1:n.2597_2599delinsCCT
NR_148394.1:n.2351_2353delinsCCT
NR_148395.1:n.2749_2751delinsCCT
NR_148396.1:n.2383_2385delinsCCT
NR_148397.1:n.2508_2510delinsCCT
NR_148398.1:n.2463_2465delinsCCT
NR_148399.1:n.2824-11_2824-9delinsCCT
NR_148400.1:n.2588_2590delinsCCT
XM_005272162.3:c.230_232delinsCCT	XP_005272219.1:n.230_232delinsCCT
XM_006716932.2:c.230_232delinsCCT	XP_006716995.1:n.230_232delinsCCT
XM_011518140.2:c.230_232delinsCCT	XP_011516442.1:n.230_232delinsCCT
XM_011518141.2:c.230_232delinsCCT	XP_011516443.1:n.230_232delinsCCT
XM_011518142.2:c.230_232delinsCCT	XP_011516444.1:n.230_232delinsCCT
XM_011518143.2:c.230_232delinsCCT	XP_011516445.1:n.230_232delinsCCT
XM_011518145.2:c.230_232delinsCCT	XP_011516447.1:n.230_232delinsCCT
XM_017014205.2:c.230_232delinsCCT	XP_016869694.1:n.230_232delinsCCT
XM_024447380.1:c.230_232delinsCCT	XP_024303148.1:n.230_232delinsCCT
XM_024447381.1:c.230_232delinsCCT	XP_024303149.1:n.230_232delinsCCT
XM_024447382.1:c.230_232delinsCCT	XP_024303150.1:n.230_232delinsCCT
XR_001746160.2:n.2413-11_2413-9delinsCCT
XR_001746162.2:n.2783_2785delinsCCT
XR_001746164.1:n.2500_2502delinsCCT
XR_001746166.2:n.2630-11_2630-9delinsCCT
NM_001077365.2:c.230_232delinsCCT MANE Select	NP_001070833.1:n.230_232delinsCCT
NM_001077366.2:c.230_232delinsCCT	NP_001070834.1:n.230_232delinsCCT
NM_001136113.2:c.230_232delinsCCT	NP_001129585.1:n.230_232delinsCCT
NM_001136114.2:c.230_232delinsCCT	NP_001129586.1:n.230_232delinsCCT
NM_001353193.2:c.230_232delinsCCT	NP_001340122.2:n.230_232delinsCCT
NM_001353194.2:c.230_232delinsCCT	NP_001340123.1:n.230_232delinsCCT
NM_001353195.2:c.230_232delinsCCT	NP_001340124.1:n.230_232delinsCCT
NM_001353196.2:c.230_232delinsCCT	NP_001340125.1:n.230_232delinsCCT
NM_001353197.2:c.230_232delinsCCT	NP_001340126.2:n.230_232delinsCCT
NM_001353198.2:c.230_232delinsCCT	NP_001340127.2:n.230_232delinsCCT
NM_001353199.2:c.230_232delinsCCT	NP_001340128.2:n.230_232delinsCCT
NM_001353200.2:c.230_232delinsCCT	NP_001340129.1:n.230_232delinsCCT
NM_001374689.1:c.230_232delinsCCT	NP_001361618.1:n.230_232delinsCCT
NM_001374690.1:c.230_232delinsCCT	NP_001361619.1:n.230_232delinsCCT
NM_001374691.1:c.230_232delinsCCT	NP_001361620.1:n.230_232delinsCCT
NM_001374692.1:c.230_232delinsCCT	NP_001361621.1:n.230_232delinsCCT
NM_001374693.1:c.230_232delinsCCT	NP_001361622.1:n.230_232delinsCCT
NM_001374695.1:c.230_232delinsCCT	NP_001361624.1:n.230_232delinsCCT
NM_007171.4:c.230_232delinsCCT	NP_009102.4:n.230_232delinsCCT
NR_148391.2:n.2277-11_2277-9delinsCCT
NR_148392.2:n.2495-11_2495-9delinsCCT
NR_148393.2:n.2581_2583delinsCCT
NR_148394.2:n.2335_2337delinsCCT
NR_148395.2:n.2733_2735delinsCCT
NR_148396.2:n.2367_2369delinsCCT
NR_148397.2:n.2492_2494delinsCCT
NR_148398.2:n.2447_2449delinsCCT
NR_148399.2:n.2808-11_2808-9delinsCCT
NR_148400.2:n.2572_2574delinsCCT

HGVS	Amino-acid Change
ENST00000341012.13:c.230_232delinsCCT	ENSP00000343034.7:n.230_232delinsCCT
ENST00000404875.7:n.2948_2950delinsCCT
ENST00000677295.2:c.2752_2754delinsCCT	ENSP00000504346.2:n.2752_2754delinsCCT
ENST00000678264.2:c.2591_2593delinsCCT	ENSP00000503157.2:n.2591_2593delinsCCT
ENST00000682070.1:n.2718_2720delinsCCT
ENST00000682639.1:c.240-127_240-125delinsCCT
ENST00000682813.1:n.2805_2807delinsCCT
ENST00000683231.1:c.258_260delinsCCT
ENST00000683392.1:n.5000_5002delinsCCT
ENST00000683900.1:n.4308_4310delinsCCT
ENST00000684062.1:n.3074_3076delinsCCT
ENST00000684399.1:c.240-17_240-15delinsCCT
ENST00000684579.1:n.4254_4256delinsCCT
ENST00000341012.12:c.230_232delinsCCT	ENSP00000343034.7:n.230_232delinsCCT
ENST00000372220.5:c.230_232delinsCCT	ENSP00000361294.5:n.230_232delinsCCT
ENST00000372228.9:c.230_232delinsCCT	ENSP00000361302.3:n.230_232delinsCCT
ENST00000402686.8:c.230_232delinsCCT MANE Select	ENSP00000385797.4:n.230_232delinsCCT
ENST00000676640.1:c.230_232delinsCCT	ENSP00000503281.1:n.230_232delinsCCT
ENST00000676803.1:c.230_232delinsCCT	ENSP00000503093.1:n.230_232delinsCCT
ENST00000676835.1:c.1623_1625delinsCCT	ENSP00000502911.1:n.1623_1625delinsCCT
ENST00000677029.1:c.230_232delinsCCT	ENSP00000502936.1:n.230_232delinsCCT
ENST00000677099.1:c.2118_2120delinsCCT	ENSP00000504553.1:n.2118_2120delinsCCT
ENST00000677216.1:c.230_232delinsCCT	ENSP00000503772.1:n.230_232delinsCCT
ENST00000677295.1:c.1630_1632delinsCCT	ENSP00000504346.1:n.1630_1632delinsCCT
ENST00000677444.1:c.2353_2355delinsCCT
ENST00000677626.1:c.230_232delinsCCT	ENSP00000503552.1:n.230_232delinsCCT
ENST00000677853.1:c.1416_1418delinsCCT	ENSP00000503488.1:n.1416_1418delinsCCT
ENST00000678303.1:c.230_232delinsCCT	ENSP00000503696.1:n.230_232delinsCCT
ENST00000678366.1:c.2657_2659delinsCCT	ENSP00000504353.1:n.2657_2659delinsCCT
ENST00000678546.1:c.2353_2355delinsCCT	ENSP00000503062.1:n.2353_2355delinsCCT
ENST00000678548.1:c.2547_2549delinsCCT	ENSP00000503934.1:n.2547_2549delinsCCT
ENST00000678626.1:n.2244_2246delinsCCT
ENST00000678739.1:c.2574_2576delinsCCT	ENSP00000503806.1:n.2574_2576delinsCCT
ENST00000678833.1:c.2160_2162delinsCCT	ENSP00000503893.1:n.2160_2162delinsCCT
ENST00000679023.1:c.65-11_65-9delinsCCT	ENSP00000503718.1:n.65-11_65-9delinsCCT
ENST00000679076.1:c.2027_2029delinsCCT
ENST00000679111.1:c.1164_1166delinsCCT	ENSP00000504257.1:n.1164_1166delinsCCT
ENST00000341012.11:c.230_232delinsCCT	ENSP00000343034.7:n.230_232delinsCCT
ENST00000372220.4:c.1271_1273delinsCCT	ENSP00000361294.4:n.1271_1273delinsCCT
ENST00000372228.7:c.230_232delinsCCT	ENSP00000361302.3:n.230_232delinsCCT
ENST00000402686.7:c.230_232delinsCCT	ENSP00000385797.3:n.230_232delinsCCT
ENST00000404875.6:c.230_232delinsCCT	ENSP00000384531.2:n.230_232delinsCCT
ENST00000423007.5:c.230_232delinsCCT	ENSP00000404119.1:n.230_232delinsCCT
ENST00000485278.5:n.2958_2960delinsCCT
NM_001077365.1:c.230_232delinsCCT	NP_001070833.1:n.230_232delinsCCT
NM_001077366.1:c.230_232delinsCCT	NP_001070834.1:n.230_232delinsCCT
NM_001136113.1:c.230_232delinsCCT	NP_001129585.1:n.230_232delinsCCT
NM_001136114.1:c.230_232delinsCCT	NP_001129586.1:n.230_232delinsCCT
NM_007171.3:c.230_232delinsCCT	NP_009102.3:n.230_232delinsCCT
XM_005272156.1:c.230_232delinsCCT	XP_005272213.1:n.230_232delinsCCT
XM_005272158.1:c.230_232delinsCCT	XP_005272215.1:n.230_232delinsCCT
XM_005272159.1:c.230_232delinsCCT	XP_005272216.1:n.230_232delinsCCT
XM_005272162.1:c.230_232delinsCCT	XP_005272219.1:n.230_232delinsCCT
XM_006716932.1:c.230_232delinsCCT	XP_006716995.1:n.230_232delinsCCT
XM_011518140.1:c.230_232delinsCCT	XP_011516442.1:n.230_232delinsCCT
XM_011518141.1:c.230_232delinsCCT	XP_011516443.1:n.230_232delinsCCT
XM_011518142.1:c.230_232delinsCCT	XP_011516444.1:n.230_232delinsCCT
XM_011518143.1:c.230_232delinsCCT	XP_011516445.1:n.230_232delinsCCT
XM_011518145.1:c.230_232delinsCCT	XP_011516447.1:n.230_232delinsCCT
XM_011518147.1:c.230_232delinsCCT	XP_011516449.1:n.230_232delinsCCT
XR_929703.1:n.2485-11_2485-9delinsCCT
NM_001353193.1:c.230_232delinsCCT	NP_001340122.1:n.230_232delinsCCT
NM_001353194.1:c.230_232delinsCCT	NP_001340123.1:n.230_232delinsCCT
NM_001353195.1:c.230_232delinsCCT	NP_001340124.1:n.230_232delinsCCT
NM_001353196.1:c.230_232delinsCCT	NP_001340125.1:n.230_232delinsCCT
NM_001353197.1:c.230_232delinsCCT	NP_001340126.1:n.230_232delinsCCT
NM_001353198.1:c.230_232delinsCCT	NP_001340127.1:n.230_232delinsCCT
NM_001353199.1:c.230_232delinsCCT	NP_001340128.1:n.230_232delinsCCT
NM_001353200.1:c.230_232delinsCCT	NP_001340129.1:n.230_232delinsCCT
NR_148391.1:n.2293-11_2293-9delinsCCT
NR_148392.1:n.2511-11_2511-9delinsCCT
NR_148393.1:n.2597_2599delinsCCT
NR_148394.1:n.2351_2353delinsCCT
NR_148395.1:n.2749_2751delinsCCT
NR_148396.1:n.2383_2385delinsCCT
NR_148397.1:n.2508_2510delinsCCT
NR_148398.1:n.2463_2465delinsCCT
NR_148399.1:n.2824-11_2824-9delinsCCT
NR_148400.1:n.2588_2590delinsCCT
XM_005272162.3:c.230_232delinsCCT	XP_005272219.1:n.230_232delinsCCT
XM_006716932.2:c.230_232delinsCCT	XP_006716995.1:n.230_232delinsCCT
XM_011518140.2:c.230_232delinsCCT	XP_011516442.1:n.230_232delinsCCT
XM_011518141.2:c.230_232delinsCCT	XP_011516443.1:n.230_232delinsCCT
XM_011518142.2:c.230_232delinsCCT	XP_011516444.1:n.230_232delinsCCT
XM_011518143.2:c.230_232delinsCCT	XP_011516445.1:n.230_232delinsCCT
XM_011518145.2:c.230_232delinsCCT	XP_011516447.1:n.230_232delinsCCT
XM_017014205.2:c.230_232delinsCCT	XP_016869694.1:n.230_232delinsCCT
XM_024447380.1:c.230_232delinsCCT	XP_024303148.1:n.230_232delinsCCT
XM_024447381.1:c.230_232delinsCCT	XP_024303149.1:n.230_232delinsCCT
XM_024447382.1:c.230_232delinsCCT	XP_024303150.1:n.230_232delinsCCT
XR_001746160.2:n.2413-11_2413-9delinsCCT
XR_001746162.2:n.2783_2785delinsCCT
XR_001746164.1:n.2500_2502delinsCCT
XR_001746166.2:n.2630-11_2630-9delinsCCT
NM_001077365.2:c.230_232delinsCCT MANE Select	NP_001070833.1:n.230_232delinsCCT
NM_001077366.2:c.230_232delinsCCT	NP_001070834.1:n.230_232delinsCCT
NM_001136113.2:c.230_232delinsCCT	NP_001129585.1:n.230_232delinsCCT
NM_001136114.2:c.230_232delinsCCT	NP_001129586.1:n.230_232delinsCCT
NM_001353193.2:c.230_232delinsCCT	NP_001340122.2:n.230_232delinsCCT
NM_001353194.2:c.230_232delinsCCT	NP_001340123.1:n.230_232delinsCCT
NM_001353195.2:c.230_232delinsCCT	NP_001340124.1:n.230_232delinsCCT
NM_001353196.2:c.230_232delinsCCT	NP_001340125.1:n.230_232delinsCCT
NM_001353197.2:c.230_232delinsCCT	NP_001340126.2:n.230_232delinsCCT
NM_001353198.2:c.230_232delinsCCT	NP_001340127.2:n.230_232delinsCCT
NM_001353199.2:c.230_232delinsCCT	NP_001340128.2:n.230_232delinsCCT
NM_001353200.2:c.230_232delinsCCT	NP_001340129.1:n.230_232delinsCCT
NM_001374689.1:c.230_232delinsCCT	NP_001361618.1:n.230_232delinsCCT
NM_001374690.1:c.230_232delinsCCT	NP_001361619.1:n.230_232delinsCCT
NM_001374691.1:c.230_232delinsCCT	NP_001361620.1:n.230_232delinsCCT
NM_001374692.1:c.230_232delinsCCT	NP_001361621.1:n.230_232delinsCCT
NM_001374693.1:c.230_232delinsCCT	NP_001361622.1:n.230_232delinsCCT
NM_001374695.1:c.230_232delinsCCT	NP_001361624.1:n.230_232delinsCCT
NM_007171.4:c.230_232delinsCCT	NP_009102.4:n.230_232delinsCCT
NR_148391.2:n.2277-11_2277-9delinsCCT
NR_148392.2:n.2495-11_2495-9delinsCCT
NR_148393.2:n.2581_2583delinsCCT
NR_148394.2:n.2335_2337delinsCCT
NR_148395.2:n.2733_2735delinsCCT
NR_148396.2:n.2367_2369delinsCCT
NR_148397.2:n.2492_2494delinsCCT
NR_148398.2:n.2447_2449delinsCCT
NR_148399.2:n.2808-11_2808-9delinsCCT
NR_148400.2:n.2572_2574delinsCCT