Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523337_131523338delinsCT , CM000671.2:g.131523337_131523338delinsCT	GRCh38
NC_000009.11:g.134398724_134398725delinsCT , CM000671.1:g.134398724_134398725delinsCT	GRCh37
NC_000009.10:g.133388545_133388546delinsCT	NCBI36
NG_008896.1:g.25436_25437delinsCT
NG_008896.2:g.25436_25437delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.231_232delinsCT	ENSP00000343034.7:n.231_232delinsCT
ENST00000404875.7:n.2949_2950delinsCT
ENST00000677295.2:c.2753_2754delinsCT	ENSP00000504346.2:n.2753_2754delinsCT
ENST00000678264.2:c.2592_2593delinsCT	ENSP00000503157.2:n.2592_2593delinsCT
ENST00000682070.1:n.2719_2720delinsCT
ENST00000682639.1:c.240-126_240-125delinsCT
ENST00000682813.1:n.2806_2807delinsCT
ENST00000683231.1:c.259_260delinsCT
ENST00000683392.1:n.5001_5002delinsCT
ENST00000683900.1:n.4309_4310delinsCT
ENST00000684062.1:n.3075_3076delinsCT
ENST00000684399.1:c.240-16_240-15delinsCT
ENST00000684579.1:n.4255_4256delinsCT
ENST00000341012.12:c.231_232delinsCT	ENSP00000343034.7:n.231_232delinsCT
ENST00000372220.5:c.231_232delinsCT	ENSP00000361294.5:n.231_232delinsCT
ENST00000372228.9:c.231_232delinsCT	ENSP00000361302.3:n.231_232delinsCT
ENST00000402686.8:c.231_232delinsCT MANE Select	ENSP00000385797.4:n.231_232delinsCT
ENST00000676640.1:c.231_232delinsCT	ENSP00000503281.1:n.231_232delinsCT
ENST00000676803.1:c.231_232delinsCT	ENSP00000503093.1:n.231_232delinsCT
ENST00000676835.1:c.1624_1625delinsCT	ENSP00000502911.1:n.1624_1625delinsCT
ENST00000677029.1:c.231_232delinsCT	ENSP00000502936.1:n.231_232delinsCT
ENST00000677099.1:c.2119_2120delinsCT	ENSP00000504553.1:n.2119_2120delinsCT
ENST00000677216.1:c.231_232delinsCT	ENSP00000503772.1:n.231_232delinsCT
ENST00000677295.1:c.1631_1632delinsCT	ENSP00000504346.1:n.1631_1632delinsCT
ENST00000677444.1:c.2354_2355delinsCT
ENST00000677626.1:c.231_232delinsCT	ENSP00000503552.1:n.231_232delinsCT
ENST00000677853.1:c.1417_1418delinsCT	ENSP00000503488.1:n.1417_1418delinsCT
ENST00000678303.1:c.231_232delinsCT	ENSP00000503696.1:n.231_232delinsCT
ENST00000678366.1:c.2658_2659delinsCT	ENSP00000504353.1:n.2658_2659delinsCT
ENST00000678546.1:c.2354_2355delinsCT	ENSP00000503062.1:n.2354_2355delinsCT
ENST00000678548.1:c.2548_2549delinsCT	ENSP00000503934.1:n.2548_2549delinsCT
ENST00000678626.1:n.2245_2246delinsCT
ENST00000678739.1:c.2575_2576delinsCT	ENSP00000503806.1:n.2575_2576delinsCT
ENST00000678833.1:c.2161_2162delinsCT	ENSP00000503893.1:n.2161_2162delinsCT
ENST00000679023.1:c.65-10_65-9delinsCT	ENSP00000503718.1:n.65-10_65-9delinsCT
ENST00000679076.1:c.2028_2029delinsCT
ENST00000679111.1:c.1165_1166delinsCT	ENSP00000504257.1:n.1165_1166delinsCT
ENST00000341012.11:c.231_232delinsCT	ENSP00000343034.7:n.231_232delinsCT
ENST00000372220.4:c.1272_1273delinsCT	ENSP00000361294.4:n.1272_1273delinsCT
ENST00000372228.7:c.231_232delinsCT	ENSP00000361302.3:n.231_232delinsCT
ENST00000402686.7:c.231_232delinsCT	ENSP00000385797.3:n.231_232delinsCT
ENST00000404875.6:c.231_232delinsCT	ENSP00000384531.2:n.231_232delinsCT
ENST00000423007.5:c.231_232delinsCT	ENSP00000404119.1:n.231_232delinsCT
ENST00000485278.5:n.2959_2960delinsCT
NM_001077365.1:c.231_232delinsCT	NP_001070833.1:n.231_232delinsCT
NM_001077366.1:c.231_232delinsCT	NP_001070834.1:n.231_232delinsCT
NM_001136113.1:c.231_232delinsCT	NP_001129585.1:n.231_232delinsCT
NM_001136114.1:c.231_232delinsCT	NP_001129586.1:n.231_232delinsCT
NM_007171.3:c.231_232delinsCT	NP_009102.3:n.231_232delinsCT
XM_005272156.1:c.231_232delinsCT	XP_005272213.1:n.231_232delinsCT
XM_005272158.1:c.231_232delinsCT	XP_005272215.1:n.231_232delinsCT
XM_005272159.1:c.231_232delinsCT	XP_005272216.1:n.231_232delinsCT
XM_005272162.1:c.231_232delinsCT	XP_005272219.1:n.231_232delinsCT
XM_006716932.1:c.231_232delinsCT	XP_006716995.1:n.231_232delinsCT
XM_011518140.1:c.231_232delinsCT	XP_011516442.1:n.231_232delinsCT
XM_011518141.1:c.231_232delinsCT	XP_011516443.1:n.231_232delinsCT
XM_011518142.1:c.231_232delinsCT	XP_011516444.1:n.231_232delinsCT
XM_011518143.1:c.231_232delinsCT	XP_011516445.1:n.231_232delinsCT
XM_011518145.1:c.231_232delinsCT	XP_011516447.1:n.231_232delinsCT
XM_011518147.1:c.231_232delinsCT	XP_011516449.1:n.231_232delinsCT
XR_929703.1:n.2485-10_2485-9delinsCT
NM_001353193.1:c.231_232delinsCT	NP_001340122.1:n.231_232delinsCT
NM_001353194.1:c.231_232delinsCT	NP_001340123.1:n.231_232delinsCT
NM_001353195.1:c.231_232delinsCT	NP_001340124.1:n.231_232delinsCT
NM_001353196.1:c.231_232delinsCT	NP_001340125.1:n.231_232delinsCT
NM_001353197.1:c.231_232delinsCT	NP_001340126.1:n.231_232delinsCT
NM_001353198.1:c.231_232delinsCT	NP_001340127.1:n.231_232delinsCT
NM_001353199.1:c.231_232delinsCT	NP_001340128.1:n.231_232delinsCT
NM_001353200.1:c.231_232delinsCT	NP_001340129.1:n.231_232delinsCT
NR_148391.1:n.2293-10_2293-9delinsCT
NR_148392.1:n.2511-10_2511-9delinsCT
NR_148393.1:n.2598_2599delinsCT
NR_148394.1:n.2352_2353delinsCT
NR_148395.1:n.2750_2751delinsCT
NR_148396.1:n.2384_2385delinsCT
NR_148397.1:n.2509_2510delinsCT
NR_148398.1:n.2464_2465delinsCT
NR_148399.1:n.2824-10_2824-9delinsCT
NR_148400.1:n.2589_2590delinsCT
XM_005272162.3:c.231_232delinsCT	XP_005272219.1:n.231_232delinsCT
XM_006716932.2:c.231_232delinsCT	XP_006716995.1:n.231_232delinsCT
XM_011518140.2:c.231_232delinsCT	XP_011516442.1:n.231_232delinsCT
XM_011518141.2:c.231_232delinsCT	XP_011516443.1:n.231_232delinsCT
XM_011518142.2:c.231_232delinsCT	XP_011516444.1:n.231_232delinsCT
XM_011518143.2:c.231_232delinsCT	XP_011516445.1:n.231_232delinsCT
XM_011518145.2:c.231_232delinsCT	XP_011516447.1:n.231_232delinsCT
XM_017014205.2:c.231_232delinsCT	XP_016869694.1:n.231_232delinsCT
XM_024447380.1:c.231_232delinsCT	XP_024303148.1:n.231_232delinsCT
XM_024447381.1:c.231_232delinsCT	XP_024303149.1:n.231_232delinsCT
XM_024447382.1:c.231_232delinsCT	XP_024303150.1:n.231_232delinsCT
XR_001746160.2:n.2413-10_2413-9delinsCT
XR_001746162.2:n.2784_2785delinsCT
XR_001746164.1:n.2501_2502delinsCT
XR_001746166.2:n.2630-10_2630-9delinsCT
NM_001077365.2:c.231_232delinsCT MANE Select	NP_001070833.1:n.231_232delinsCT
NM_001077366.2:c.231_232delinsCT	NP_001070834.1:n.231_232delinsCT
NM_001136113.2:c.231_232delinsCT	NP_001129585.1:n.231_232delinsCT
NM_001136114.2:c.231_232delinsCT	NP_001129586.1:n.231_232delinsCT
NM_001353193.2:c.231_232delinsCT	NP_001340122.2:n.231_232delinsCT
NM_001353194.2:c.231_232delinsCT	NP_001340123.1:n.231_232delinsCT
NM_001353195.2:c.231_232delinsCT	NP_001340124.1:n.231_232delinsCT
NM_001353196.2:c.231_232delinsCT	NP_001340125.1:n.231_232delinsCT
NM_001353197.2:c.231_232delinsCT	NP_001340126.2:n.231_232delinsCT
NM_001353198.2:c.231_232delinsCT	NP_001340127.2:n.231_232delinsCT
NM_001353199.2:c.231_232delinsCT	NP_001340128.2:n.231_232delinsCT
NM_001353200.2:c.231_232delinsCT	NP_001340129.1:n.231_232delinsCT
NM_001374689.1:c.231_232delinsCT	NP_001361618.1:n.231_232delinsCT
NM_001374690.1:c.231_232delinsCT	NP_001361619.1:n.231_232delinsCT
NM_001374691.1:c.231_232delinsCT	NP_001361620.1:n.231_232delinsCT
NM_001374692.1:c.231_232delinsCT	NP_001361621.1:n.231_232delinsCT
NM_001374693.1:c.231_232delinsCT	NP_001361622.1:n.231_232delinsCT
NM_001374695.1:c.231_232delinsCT	NP_001361624.1:n.231_232delinsCT
NM_007171.4:c.231_232delinsCT	NP_009102.4:n.231_232delinsCT
NR_148391.2:n.2277-10_2277-9delinsCT
NR_148392.2:n.2495-10_2495-9delinsCT
NR_148393.2:n.2582_2583delinsCT
NR_148394.2:n.2336_2337delinsCT
NR_148395.2:n.2734_2735delinsCT
NR_148396.2:n.2368_2369delinsCT
NR_148397.2:n.2493_2494delinsCT
NR_148398.2:n.2448_2449delinsCT
NR_148399.2:n.2808-10_2808-9delinsCT
NR_148400.2:n.2573_2574delinsCT

HGVS	Amino-acid Change
ENST00000341012.13:c.231_232delinsCT	ENSP00000343034.7:n.231_232delinsCT
ENST00000404875.7:n.2949_2950delinsCT
ENST00000677295.2:c.2753_2754delinsCT	ENSP00000504346.2:n.2753_2754delinsCT
ENST00000678264.2:c.2592_2593delinsCT	ENSP00000503157.2:n.2592_2593delinsCT
ENST00000682070.1:n.2719_2720delinsCT
ENST00000682639.1:c.240-126_240-125delinsCT
ENST00000682813.1:n.2806_2807delinsCT
ENST00000683231.1:c.259_260delinsCT
ENST00000683392.1:n.5001_5002delinsCT
ENST00000683900.1:n.4309_4310delinsCT
ENST00000684062.1:n.3075_3076delinsCT
ENST00000684399.1:c.240-16_240-15delinsCT
ENST00000684579.1:n.4255_4256delinsCT
ENST00000341012.12:c.231_232delinsCT	ENSP00000343034.7:n.231_232delinsCT
ENST00000372220.5:c.231_232delinsCT	ENSP00000361294.5:n.231_232delinsCT
ENST00000372228.9:c.231_232delinsCT	ENSP00000361302.3:n.231_232delinsCT
ENST00000402686.8:c.231_232delinsCT MANE Select	ENSP00000385797.4:n.231_232delinsCT
ENST00000676640.1:c.231_232delinsCT	ENSP00000503281.1:n.231_232delinsCT
ENST00000676803.1:c.231_232delinsCT	ENSP00000503093.1:n.231_232delinsCT
ENST00000676835.1:c.1624_1625delinsCT	ENSP00000502911.1:n.1624_1625delinsCT
ENST00000677029.1:c.231_232delinsCT	ENSP00000502936.1:n.231_232delinsCT
ENST00000677099.1:c.2119_2120delinsCT	ENSP00000504553.1:n.2119_2120delinsCT
ENST00000677216.1:c.231_232delinsCT	ENSP00000503772.1:n.231_232delinsCT
ENST00000677295.1:c.1631_1632delinsCT	ENSP00000504346.1:n.1631_1632delinsCT
ENST00000677444.1:c.2354_2355delinsCT
ENST00000677626.1:c.231_232delinsCT	ENSP00000503552.1:n.231_232delinsCT
ENST00000677853.1:c.1417_1418delinsCT	ENSP00000503488.1:n.1417_1418delinsCT
ENST00000678303.1:c.231_232delinsCT	ENSP00000503696.1:n.231_232delinsCT
ENST00000678366.1:c.2658_2659delinsCT	ENSP00000504353.1:n.2658_2659delinsCT
ENST00000678546.1:c.2354_2355delinsCT	ENSP00000503062.1:n.2354_2355delinsCT
ENST00000678548.1:c.2548_2549delinsCT	ENSP00000503934.1:n.2548_2549delinsCT
ENST00000678626.1:n.2245_2246delinsCT
ENST00000678739.1:c.2575_2576delinsCT	ENSP00000503806.1:n.2575_2576delinsCT
ENST00000678833.1:c.2161_2162delinsCT	ENSP00000503893.1:n.2161_2162delinsCT
ENST00000679023.1:c.65-10_65-9delinsCT	ENSP00000503718.1:n.65-10_65-9delinsCT
ENST00000679076.1:c.2028_2029delinsCT
ENST00000679111.1:c.1165_1166delinsCT	ENSP00000504257.1:n.1165_1166delinsCT
ENST00000341012.11:c.231_232delinsCT	ENSP00000343034.7:n.231_232delinsCT
ENST00000372220.4:c.1272_1273delinsCT	ENSP00000361294.4:n.1272_1273delinsCT
ENST00000372228.7:c.231_232delinsCT	ENSP00000361302.3:n.231_232delinsCT
ENST00000402686.7:c.231_232delinsCT	ENSP00000385797.3:n.231_232delinsCT
ENST00000404875.6:c.231_232delinsCT	ENSP00000384531.2:n.231_232delinsCT
ENST00000423007.5:c.231_232delinsCT	ENSP00000404119.1:n.231_232delinsCT
ENST00000485278.5:n.2959_2960delinsCT
NM_001077365.1:c.231_232delinsCT	NP_001070833.1:n.231_232delinsCT
NM_001077366.1:c.231_232delinsCT	NP_001070834.1:n.231_232delinsCT
NM_001136113.1:c.231_232delinsCT	NP_001129585.1:n.231_232delinsCT
NM_001136114.1:c.231_232delinsCT	NP_001129586.1:n.231_232delinsCT
NM_007171.3:c.231_232delinsCT	NP_009102.3:n.231_232delinsCT
XM_005272156.1:c.231_232delinsCT	XP_005272213.1:n.231_232delinsCT
XM_005272158.1:c.231_232delinsCT	XP_005272215.1:n.231_232delinsCT
XM_005272159.1:c.231_232delinsCT	XP_005272216.1:n.231_232delinsCT
XM_005272162.1:c.231_232delinsCT	XP_005272219.1:n.231_232delinsCT
XM_006716932.1:c.231_232delinsCT	XP_006716995.1:n.231_232delinsCT
XM_011518140.1:c.231_232delinsCT	XP_011516442.1:n.231_232delinsCT
XM_011518141.1:c.231_232delinsCT	XP_011516443.1:n.231_232delinsCT
XM_011518142.1:c.231_232delinsCT	XP_011516444.1:n.231_232delinsCT
XM_011518143.1:c.231_232delinsCT	XP_011516445.1:n.231_232delinsCT
XM_011518145.1:c.231_232delinsCT	XP_011516447.1:n.231_232delinsCT
XM_011518147.1:c.231_232delinsCT	XP_011516449.1:n.231_232delinsCT
XR_929703.1:n.2485-10_2485-9delinsCT
NM_001353193.1:c.231_232delinsCT	NP_001340122.1:n.231_232delinsCT
NM_001353194.1:c.231_232delinsCT	NP_001340123.1:n.231_232delinsCT
NM_001353195.1:c.231_232delinsCT	NP_001340124.1:n.231_232delinsCT
NM_001353196.1:c.231_232delinsCT	NP_001340125.1:n.231_232delinsCT
NM_001353197.1:c.231_232delinsCT	NP_001340126.1:n.231_232delinsCT
NM_001353198.1:c.231_232delinsCT	NP_001340127.1:n.231_232delinsCT
NM_001353199.1:c.231_232delinsCT	NP_001340128.1:n.231_232delinsCT
NM_001353200.1:c.231_232delinsCT	NP_001340129.1:n.231_232delinsCT
NR_148391.1:n.2293-10_2293-9delinsCT
NR_148392.1:n.2511-10_2511-9delinsCT
NR_148393.1:n.2598_2599delinsCT
NR_148394.1:n.2352_2353delinsCT
NR_148395.1:n.2750_2751delinsCT
NR_148396.1:n.2384_2385delinsCT
NR_148397.1:n.2509_2510delinsCT
NR_148398.1:n.2464_2465delinsCT
NR_148399.1:n.2824-10_2824-9delinsCT
NR_148400.1:n.2589_2590delinsCT
XM_005272162.3:c.231_232delinsCT	XP_005272219.1:n.231_232delinsCT
XM_006716932.2:c.231_232delinsCT	XP_006716995.1:n.231_232delinsCT
XM_011518140.2:c.231_232delinsCT	XP_011516442.1:n.231_232delinsCT
XM_011518141.2:c.231_232delinsCT	XP_011516443.1:n.231_232delinsCT
XM_011518142.2:c.231_232delinsCT	XP_011516444.1:n.231_232delinsCT
XM_011518143.2:c.231_232delinsCT	XP_011516445.1:n.231_232delinsCT
XM_011518145.2:c.231_232delinsCT	XP_011516447.1:n.231_232delinsCT
XM_017014205.2:c.231_232delinsCT	XP_016869694.1:n.231_232delinsCT
XM_024447380.1:c.231_232delinsCT	XP_024303148.1:n.231_232delinsCT
XM_024447381.1:c.231_232delinsCT	XP_024303149.1:n.231_232delinsCT
XM_024447382.1:c.231_232delinsCT	XP_024303150.1:n.231_232delinsCT
XR_001746160.2:n.2413-10_2413-9delinsCT
XR_001746162.2:n.2784_2785delinsCT
XR_001746164.1:n.2501_2502delinsCT
XR_001746166.2:n.2630-10_2630-9delinsCT
NM_001077365.2:c.231_232delinsCT MANE Select	NP_001070833.1:n.231_232delinsCT
NM_001077366.2:c.231_232delinsCT	NP_001070834.1:n.231_232delinsCT
NM_001136113.2:c.231_232delinsCT	NP_001129585.1:n.231_232delinsCT
NM_001136114.2:c.231_232delinsCT	NP_001129586.1:n.231_232delinsCT
NM_001353193.2:c.231_232delinsCT	NP_001340122.2:n.231_232delinsCT
NM_001353194.2:c.231_232delinsCT	NP_001340123.1:n.231_232delinsCT
NM_001353195.2:c.231_232delinsCT	NP_001340124.1:n.231_232delinsCT
NM_001353196.2:c.231_232delinsCT	NP_001340125.1:n.231_232delinsCT
NM_001353197.2:c.231_232delinsCT	NP_001340126.2:n.231_232delinsCT
NM_001353198.2:c.231_232delinsCT	NP_001340127.2:n.231_232delinsCT
NM_001353199.2:c.231_232delinsCT	NP_001340128.2:n.231_232delinsCT
NM_001353200.2:c.231_232delinsCT	NP_001340129.1:n.231_232delinsCT
NM_001374689.1:c.231_232delinsCT	NP_001361618.1:n.231_232delinsCT
NM_001374690.1:c.231_232delinsCT	NP_001361619.1:n.231_232delinsCT
NM_001374691.1:c.231_232delinsCT	NP_001361620.1:n.231_232delinsCT
NM_001374692.1:c.231_232delinsCT	NP_001361621.1:n.231_232delinsCT
NM_001374693.1:c.231_232delinsCT	NP_001361622.1:n.231_232delinsCT
NM_001374695.1:c.231_232delinsCT	NP_001361624.1:n.231_232delinsCT
NM_007171.4:c.231_232delinsCT	NP_009102.4:n.231_232delinsCT
NR_148391.2:n.2277-10_2277-9delinsCT
NR_148392.2:n.2495-10_2495-9delinsCT
NR_148393.2:n.2582_2583delinsCT
NR_148394.2:n.2336_2337delinsCT
NR_148395.2:n.2734_2735delinsCT
NR_148396.2:n.2368_2369delinsCT
NR_148397.2:n.2493_2494delinsCT
NR_148398.2:n.2448_2449delinsCT
NR_148399.2:n.2808-10_2808-9delinsCT
NR_148400.2:n.2573_2574delinsCT