Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523337_131523338del , CM000671.2:g.131523337_131523338del	GRCh38
NC_000009.11:g.134398724_134398725del , CM000671.1:g.134398724_134398725del	GRCh37
NC_000009.10:g.133388545_133388546del	NCBI36
NG_008896.1:g.25436_25437del
NG_008896.2:g.25436_25437del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.231_232del	ENSP00000343034.7:n.231_232del
ENST00000404875.7:n.2949_2950del
ENST00000677295.2:c.2753_2754del	ENSP00000504346.2:n.2753_2754del
ENST00000678264.2:c.2592_2593del	ENSP00000503157.2:n.2592_2593del
ENST00000682070.1:n.2719_2720del
ENST00000682639.1:c.240-126_240-125del
ENST00000682813.1:n.2806_2807del
ENST00000683231.1:c.259_260del
ENST00000683392.1:n.5001_5002del
ENST00000683900.1:n.4309_4310del
ENST00000684062.1:n.3075_3076del
ENST00000684399.1:c.240-16_240-15del
ENST00000684579.1:n.4255_4256del
ENST00000341012.12:c.231_232del	ENSP00000343034.7:n.231_232del
ENST00000372220.5:c.231_232del	ENSP00000361294.5:n.231_232del
ENST00000372228.9:c.231_232del	ENSP00000361302.3:n.231_232del
ENST00000402686.8:c.231_232del MANE Select	ENSP00000385797.4:n.231_232del
ENST00000676640.1:c.231_232del	ENSP00000503281.1:n.231_232del
ENST00000676803.1:c.231_232del	ENSP00000503093.1:n.231_232del
ENST00000676835.1:c.1624_1625del	ENSP00000502911.1:n.1624_1625del
ENST00000677029.1:c.231_232del	ENSP00000502936.1:n.231_232del
ENST00000677099.1:c.2119_2120del	ENSP00000504553.1:n.2119_2120del
ENST00000677216.1:c.231_232del	ENSP00000503772.1:n.231_232del
ENST00000677295.1:c.1631_1632del	ENSP00000504346.1:n.1631_1632del
ENST00000677444.1:c.2354_2355del
ENST00000677626.1:c.231_232del	ENSP00000503552.1:n.231_232del
ENST00000677853.1:c.1417_1418del	ENSP00000503488.1:n.1417_1418del
ENST00000678303.1:c.231_232del	ENSP00000503696.1:n.231_232del
ENST00000678366.1:c.2658_2659del	ENSP00000504353.1:n.2658_2659del
ENST00000678546.1:c.2354_2355del	ENSP00000503062.1:n.2354_2355del
ENST00000678548.1:c.2548_2549del	ENSP00000503934.1:n.2548_2549del
ENST00000678626.1:n.2245_2246del
ENST00000678739.1:c.2575_2576del	ENSP00000503806.1:n.2575_2576del
ENST00000678833.1:c.2161_2162del	ENSP00000503893.1:n.2161_2162del
ENST00000679023.1:c.65-10_65-9del	ENSP00000503718.1:n.65-10_65-9del
ENST00000679076.1:c.2028_2029del
ENST00000679111.1:c.1165_1166del	ENSP00000504257.1:n.1165_1166del
ENST00000341012.11:c.231_232del	ENSP00000343034.7:n.231_232del
ENST00000372220.4:c.1272_1273del	ENSP00000361294.4:n.1272_1273del
ENST00000372228.7:c.231_232del	ENSP00000361302.3:n.231_232del
ENST00000402686.7:c.231_232del	ENSP00000385797.3:n.231_232del
ENST00000404875.6:c.231_232del	ENSP00000384531.2:n.231_232del
ENST00000423007.5:c.231_232del	ENSP00000404119.1:n.231_232del
ENST00000485278.5:n.2959_2960del
NM_001077365.1:c.231_232del	NP_001070833.1:n.231_232del
NM_001077366.1:c.231_232del	NP_001070834.1:n.231_232del
NM_001136113.1:c.231_232del	NP_001129585.1:n.231_232del
NM_001136114.1:c.231_232del	NP_001129586.1:n.231_232del
NM_007171.3:c.231_232del	NP_009102.3:n.231_232del
XM_005272156.1:c.231_232del	XP_005272213.1:n.231_232del
XM_005272158.1:c.231_232del	XP_005272215.1:n.231_232del
XM_005272159.1:c.231_232del	XP_005272216.1:n.231_232del
XM_005272162.1:c.231_232del	XP_005272219.1:n.231_232del
XM_006716932.1:c.231_232del	XP_006716995.1:n.231_232del
XM_011518140.1:c.231_232del	XP_011516442.1:n.231_232del
XM_011518141.1:c.231_232del	XP_011516443.1:n.231_232del
XM_011518142.1:c.231_232del	XP_011516444.1:n.231_232del
XM_011518143.1:c.231_232del	XP_011516445.1:n.231_232del
XM_011518145.1:c.231_232del	XP_011516447.1:n.231_232del
XM_011518147.1:c.231_232del	XP_011516449.1:n.231_232del
XR_929703.1:n.2485-10_2485-9del
NM_001353193.1:c.231_232del	NP_001340122.1:n.231_232del
NM_001353194.1:c.231_232del	NP_001340123.1:n.231_232del
NM_001353195.1:c.231_232del	NP_001340124.1:n.231_232del
NM_001353196.1:c.231_232del	NP_001340125.1:n.231_232del
NM_001353197.1:c.231_232del	NP_001340126.1:n.231_232del
NM_001353198.1:c.231_232del	NP_001340127.1:n.231_232del
NM_001353199.1:c.231_232del	NP_001340128.1:n.231_232del
NM_001353200.1:c.231_232del	NP_001340129.1:n.231_232del
NR_148391.1:n.2293-10_2293-9del
NR_148392.1:n.2511-10_2511-9del
NR_148393.1:n.2598_2599del
NR_148394.1:n.2352_2353del
NR_148395.1:n.2750_2751del
NR_148396.1:n.2384_2385del
NR_148397.1:n.2509_2510del
NR_148398.1:n.2464_2465del
NR_148399.1:n.2824-10_2824-9del
NR_148400.1:n.2589_2590del
XM_005272162.3:c.231_232del	XP_005272219.1:n.231_232del
XM_006716932.2:c.231_232del	XP_006716995.1:n.231_232del
XM_011518140.2:c.231_232del	XP_011516442.1:n.231_232del
XM_011518141.2:c.231_232del	XP_011516443.1:n.231_232del
XM_011518142.2:c.231_232del	XP_011516444.1:n.231_232del
XM_011518143.2:c.231_232del	XP_011516445.1:n.231_232del
XM_011518145.2:c.231_232del	XP_011516447.1:n.231_232del
XM_017014205.2:c.231_232del	XP_016869694.1:n.231_232del
XM_024447380.1:c.231_232del	XP_024303148.1:n.231_232del
XM_024447381.1:c.231_232del	XP_024303149.1:n.231_232del
XM_024447382.1:c.231_232del	XP_024303150.1:n.231_232del
XR_001746160.2:n.2413-10_2413-9del
XR_001746162.2:n.2784_2785del
XR_001746164.1:n.2501_2502del
XR_001746166.2:n.2630-10_2630-9del
NM_001077365.2:c.231_232del MANE Select	NP_001070833.1:n.231_232del
NM_001077366.2:c.231_232del	NP_001070834.1:n.231_232del
NM_001136113.2:c.231_232del	NP_001129585.1:n.231_232del
NM_001136114.2:c.231_232del	NP_001129586.1:n.231_232del
NM_001353193.2:c.231_232del	NP_001340122.2:n.231_232del
NM_001353194.2:c.231_232del	NP_001340123.1:n.231_232del
NM_001353195.2:c.231_232del	NP_001340124.1:n.231_232del
NM_001353196.2:c.231_232del	NP_001340125.1:n.231_232del
NM_001353197.2:c.231_232del	NP_001340126.2:n.231_232del
NM_001353198.2:c.231_232del	NP_001340127.2:n.231_232del
NM_001353199.2:c.231_232del	NP_001340128.2:n.231_232del
NM_001353200.2:c.231_232del	NP_001340129.1:n.231_232del
NM_001374689.1:c.231_232del	NP_001361618.1:n.231_232del
NM_001374690.1:c.231_232del	NP_001361619.1:n.231_232del
NM_001374691.1:c.231_232del	NP_001361620.1:n.231_232del
NM_001374692.1:c.231_232del	NP_001361621.1:n.231_232del
NM_001374693.1:c.231_232del	NP_001361622.1:n.231_232del
NM_001374695.1:c.231_232del	NP_001361624.1:n.231_232del
NM_007171.4:c.231_232del	NP_009102.4:n.231_232del
NR_148391.2:n.2277-10_2277-9del
NR_148392.2:n.2495-10_2495-9del
NR_148393.2:n.2582_2583del
NR_148394.2:n.2336_2337del
NR_148395.2:n.2734_2735del
NR_148396.2:n.2368_2369del
NR_148397.2:n.2493_2494del
NR_148398.2:n.2448_2449del
NR_148399.2:n.2808-10_2808-9del
NR_148400.2:n.2573_2574del

HGVS	Amino-acid Change
ENST00000341012.13:c.231_232del	ENSP00000343034.7:n.231_232del
ENST00000404875.7:n.2949_2950del
ENST00000677295.2:c.2753_2754del	ENSP00000504346.2:n.2753_2754del
ENST00000678264.2:c.2592_2593del	ENSP00000503157.2:n.2592_2593del
ENST00000682070.1:n.2719_2720del
ENST00000682639.1:c.240-126_240-125del
ENST00000682813.1:n.2806_2807del
ENST00000683231.1:c.259_260del
ENST00000683392.1:n.5001_5002del
ENST00000683900.1:n.4309_4310del
ENST00000684062.1:n.3075_3076del
ENST00000684399.1:c.240-16_240-15del
ENST00000684579.1:n.4255_4256del
ENST00000341012.12:c.231_232del	ENSP00000343034.7:n.231_232del
ENST00000372220.5:c.231_232del	ENSP00000361294.5:n.231_232del
ENST00000372228.9:c.231_232del	ENSP00000361302.3:n.231_232del
ENST00000402686.8:c.231_232del MANE Select	ENSP00000385797.4:n.231_232del
ENST00000676640.1:c.231_232del	ENSP00000503281.1:n.231_232del
ENST00000676803.1:c.231_232del	ENSP00000503093.1:n.231_232del
ENST00000676835.1:c.1624_1625del	ENSP00000502911.1:n.1624_1625del
ENST00000677029.1:c.231_232del	ENSP00000502936.1:n.231_232del
ENST00000677099.1:c.2119_2120del	ENSP00000504553.1:n.2119_2120del
ENST00000677216.1:c.231_232del	ENSP00000503772.1:n.231_232del
ENST00000677295.1:c.1631_1632del	ENSP00000504346.1:n.1631_1632del
ENST00000677444.1:c.2354_2355del
ENST00000677626.1:c.231_232del	ENSP00000503552.1:n.231_232del
ENST00000677853.1:c.1417_1418del	ENSP00000503488.1:n.1417_1418del
ENST00000678303.1:c.231_232del	ENSP00000503696.1:n.231_232del
ENST00000678366.1:c.2658_2659del	ENSP00000504353.1:n.2658_2659del
ENST00000678546.1:c.2354_2355del	ENSP00000503062.1:n.2354_2355del
ENST00000678548.1:c.2548_2549del	ENSP00000503934.1:n.2548_2549del
ENST00000678626.1:n.2245_2246del
ENST00000678739.1:c.2575_2576del	ENSP00000503806.1:n.2575_2576del
ENST00000678833.1:c.2161_2162del	ENSP00000503893.1:n.2161_2162del
ENST00000679023.1:c.65-10_65-9del	ENSP00000503718.1:n.65-10_65-9del
ENST00000679076.1:c.2028_2029del
ENST00000679111.1:c.1165_1166del	ENSP00000504257.1:n.1165_1166del
ENST00000341012.11:c.231_232del	ENSP00000343034.7:n.231_232del
ENST00000372220.4:c.1272_1273del	ENSP00000361294.4:n.1272_1273del
ENST00000372228.7:c.231_232del	ENSP00000361302.3:n.231_232del
ENST00000402686.7:c.231_232del	ENSP00000385797.3:n.231_232del
ENST00000404875.6:c.231_232del	ENSP00000384531.2:n.231_232del
ENST00000423007.5:c.231_232del	ENSP00000404119.1:n.231_232del
ENST00000485278.5:n.2959_2960del
NM_001077365.1:c.231_232del	NP_001070833.1:n.231_232del
NM_001077366.1:c.231_232del	NP_001070834.1:n.231_232del
NM_001136113.1:c.231_232del	NP_001129585.1:n.231_232del
NM_001136114.1:c.231_232del	NP_001129586.1:n.231_232del
NM_007171.3:c.231_232del	NP_009102.3:n.231_232del
XM_005272156.1:c.231_232del	XP_005272213.1:n.231_232del
XM_005272158.1:c.231_232del	XP_005272215.1:n.231_232del
XM_005272159.1:c.231_232del	XP_005272216.1:n.231_232del
XM_005272162.1:c.231_232del	XP_005272219.1:n.231_232del
XM_006716932.1:c.231_232del	XP_006716995.1:n.231_232del
XM_011518140.1:c.231_232del	XP_011516442.1:n.231_232del
XM_011518141.1:c.231_232del	XP_011516443.1:n.231_232del
XM_011518142.1:c.231_232del	XP_011516444.1:n.231_232del
XM_011518143.1:c.231_232del	XP_011516445.1:n.231_232del
XM_011518145.1:c.231_232del	XP_011516447.1:n.231_232del
XM_011518147.1:c.231_232del	XP_011516449.1:n.231_232del
XR_929703.1:n.2485-10_2485-9del
NM_001353193.1:c.231_232del	NP_001340122.1:n.231_232del
NM_001353194.1:c.231_232del	NP_001340123.1:n.231_232del
NM_001353195.1:c.231_232del	NP_001340124.1:n.231_232del
NM_001353196.1:c.231_232del	NP_001340125.1:n.231_232del
NM_001353197.1:c.231_232del	NP_001340126.1:n.231_232del
NM_001353198.1:c.231_232del	NP_001340127.1:n.231_232del
NM_001353199.1:c.231_232del	NP_001340128.1:n.231_232del
NM_001353200.1:c.231_232del	NP_001340129.1:n.231_232del
NR_148391.1:n.2293-10_2293-9del
NR_148392.1:n.2511-10_2511-9del
NR_148393.1:n.2598_2599del
NR_148394.1:n.2352_2353del
NR_148395.1:n.2750_2751del
NR_148396.1:n.2384_2385del
NR_148397.1:n.2509_2510del
NR_148398.1:n.2464_2465del
NR_148399.1:n.2824-10_2824-9del
NR_148400.1:n.2589_2590del
XM_005272162.3:c.231_232del	XP_005272219.1:n.231_232del
XM_006716932.2:c.231_232del	XP_006716995.1:n.231_232del
XM_011518140.2:c.231_232del	XP_011516442.1:n.231_232del
XM_011518141.2:c.231_232del	XP_011516443.1:n.231_232del
XM_011518142.2:c.231_232del	XP_011516444.1:n.231_232del
XM_011518143.2:c.231_232del	XP_011516445.1:n.231_232del
XM_011518145.2:c.231_232del	XP_011516447.1:n.231_232del
XM_017014205.2:c.231_232del	XP_016869694.1:n.231_232del
XM_024447380.1:c.231_232del	XP_024303148.1:n.231_232del
XM_024447381.1:c.231_232del	XP_024303149.1:n.231_232del
XM_024447382.1:c.231_232del	XP_024303150.1:n.231_232del
XR_001746160.2:n.2413-10_2413-9del
XR_001746162.2:n.2784_2785del
XR_001746164.1:n.2501_2502del
XR_001746166.2:n.2630-10_2630-9del
NM_001077365.2:c.231_232del MANE Select	NP_001070833.1:n.231_232del
NM_001077366.2:c.231_232del	NP_001070834.1:n.231_232del
NM_001136113.2:c.231_232del	NP_001129585.1:n.231_232del
NM_001136114.2:c.231_232del	NP_001129586.1:n.231_232del
NM_001353193.2:c.231_232del	NP_001340122.2:n.231_232del
NM_001353194.2:c.231_232del	NP_001340123.1:n.231_232del
NM_001353195.2:c.231_232del	NP_001340124.1:n.231_232del
NM_001353196.2:c.231_232del	NP_001340125.1:n.231_232del
NM_001353197.2:c.231_232del	NP_001340126.2:n.231_232del
NM_001353198.2:c.231_232del	NP_001340127.2:n.231_232del
NM_001353199.2:c.231_232del	NP_001340128.2:n.231_232del
NM_001353200.2:c.231_232del	NP_001340129.1:n.231_232del
NM_001374689.1:c.231_232del	NP_001361618.1:n.231_232del
NM_001374690.1:c.231_232del	NP_001361619.1:n.231_232del
NM_001374691.1:c.231_232del	NP_001361620.1:n.231_232del
NM_001374692.1:c.231_232del	NP_001361621.1:n.231_232del
NM_001374693.1:c.231_232del	NP_001361622.1:n.231_232del
NM_001374695.1:c.231_232del	NP_001361624.1:n.231_232del
NM_007171.4:c.231_232del	NP_009102.4:n.231_232del
NR_148391.2:n.2277-10_2277-9del
NR_148392.2:n.2495-10_2495-9del
NR_148393.2:n.2582_2583del
NR_148394.2:n.2336_2337del
NR_148395.2:n.2734_2735del
NR_148396.2:n.2368_2369del
NR_148397.2:n.2493_2494del
NR_148398.2:n.2448_2449del
NR_148399.2:n.2808-10_2808-9del
NR_148400.2:n.2573_2574del

Linked Data

Genomic Alleles

Transcript Alleles