Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523117_131523118del , CM000671.2:g.131523117_131523118del	GRCh38
NC_000009.11:g.134398504_134398505del , CM000671.1:g.134398504_134398505del	GRCh37
NC_000009.10:g.133388325_133388326del	NCBI36
NG_008896.1:g.25216_25217del
NG_008896.2:g.25216_25217del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.11_12del	ENSP00000343034.7:n.11_12del
ENST00000404875.7:n.2729_2730del
ENST00000677295.2:c.2533_2534del	ENSP00000504346.2:n.2533_2534del
ENST00000678264.2:c.2372_2373del	ENSP00000503157.2:n.2372_2373del
ENST00000682070.1:n.2499_2500del
ENST00000682639.1:c.186_187del
ENST00000682813.1:n.2586_2587del
ENST00000683231.1:c.186_187del
ENST00000683392.1:n.4781_4782del
ENST00000683900.1:n.4089_4090del
ENST00000684062.1:n.2855_2856del
ENST00000684399.1:c.186_187del
ENST00000684579.1:n.4035_4036del
ENST00000341012.12:c.11_12del	ENSP00000343034.7:n.11_12del
ENST00000372220.5:c.11_12del	ENSP00000361294.5:n.11_12del
ENST00000372228.9:c.11_12del	ENSP00000361302.3:n.11_12del
ENST00000402686.8:c.11_12del MANE Select	ENSP00000385797.4:n.11_12del
ENST00000676640.1:c.11_12del	ENSP00000503281.1:n.11_12del
ENST00000676803.1:c.11_12del	ENSP00000503093.1:n.11_12del
ENST00000676835.1:c.1404_1405del	ENSP00000502911.1:n.1404_1405del
ENST00000677029.1:c.11_12del	ENSP00000502936.1:n.11_12del
ENST00000677099.1:c.1899_1900del	ENSP00000504553.1:n.1899_1900del
ENST00000677216.1:c.11_12del	ENSP00000503772.1:n.11_12del
ENST00000677295.1:c.1411_1412del	ENSP00000504346.1:n.1411_1412del
ENST00000677444.1:c.2134_2135del
ENST00000677586.1:n.1556_1557del
ENST00000677626.1:c.11_12del	ENSP00000503552.1:n.11_12del
ENST00000677853.1:c.1197_1198del	ENSP00000503488.1:n.1197_1198del
ENST00000678303.1:c.11_12del	ENSP00000503696.1:n.11_12del
ENST00000678366.1:c.2438_2439del	ENSP00000504353.1:n.2438_2439del
ENST00000678546.1:c.2134_2135del	ENSP00000503062.1:n.2134_2135del
ENST00000678548.1:c.2328_2329del	ENSP00000503934.1:n.2328_2329del
ENST00000678626.1:n.2025_2026del
ENST00000678739.1:c.2355_2356del	ENSP00000503806.1:n.2355_2356del
ENST00000678833.1:c.1941_1942del	ENSP00000503893.1:n.1941_1942del
ENST00000679023.1:c.11_12del	ENSP00000503718.1:n.11_12del
ENST00000679076.1:c.1808_1809del
ENST00000679111.1:c.945_946del	ENSP00000504257.1:n.945_946del
ENST00000679189.1:c.11_12del	ENSP00000503356.1:n.11_12del
ENST00000341012.11:c.11_12del	ENSP00000343034.7:n.11_12del
ENST00000372220.4:c.1052_1053del	ENSP00000361294.4:n.1052_1053del
ENST00000372228.7:c.11_12del	ENSP00000361302.3:n.11_12del
ENST00000402686.7:c.11_12del	ENSP00000385797.3:n.11_12del
ENST00000404875.6:c.11_12del	ENSP00000384531.2:n.11_12del
ENST00000423007.5:c.11_12del	ENSP00000404119.1:n.11_12del
ENST00000485278.5:n.2739_2740del
NM_001077365.1:c.11_12del	NP_001070833.1:n.11_12del
NM_001077366.1:c.11_12del	NP_001070834.1:n.11_12del
NM_001136113.1:c.11_12del	NP_001129585.1:n.11_12del
NM_001136114.1:c.11_12del	NP_001129586.1:n.11_12del
NM_007171.3:c.11_12del	NP_009102.3:n.11_12del
XM_005272156.1:c.11_12del	XP_005272213.1:n.11_12del
XM_005272158.1:c.11_12del	XP_005272215.1:n.11_12del
XM_005272159.1:c.11_12del	XP_005272216.1:n.11_12del
XM_005272162.1:c.11_12del	XP_005272219.1:n.11_12del
XM_006716932.1:c.11_12del	XP_006716995.1:n.11_12del
XM_011518140.1:c.11_12del	XP_011516442.1:n.11_12del
XM_011518141.1:c.11_12del	XP_011516443.1:n.11_12del
XM_011518142.1:c.11_12del	XP_011516444.1:n.11_12del
XM_011518143.1:c.11_12del	XP_011516445.1:n.11_12del
XM_011518145.1:c.11_12del	XP_011516447.1:n.11_12del
XM_011518147.1:c.11_12del	XP_011516449.1:n.11_12del
XR_929703.1:n.2431_2432del
NM_001353193.1:c.11_12del	NP_001340122.1:n.11_12del
NM_001353194.1:c.11_12del	NP_001340123.1:n.11_12del
NM_001353195.1:c.11_12del	NP_001340124.1:n.11_12del
NM_001353196.1:c.11_12del	NP_001340125.1:n.11_12del
NM_001353197.1:c.11_12del	NP_001340126.1:n.11_12del
NM_001353198.1:c.11_12del	NP_001340127.1:n.11_12del
NM_001353199.1:c.11_12del	NP_001340128.1:n.11_12del
NM_001353200.1:c.11_12del	NP_001340129.1:n.11_12del
NR_148391.1:n.2239_2240del
NR_148392.1:n.2457_2458del
NR_148393.1:n.2378_2379del
NR_148394.1:n.2132_2133del
NR_148395.1:n.2530_2531del
NR_148396.1:n.2164_2165del
NR_148397.1:n.2289_2290del
NR_148398.1:n.2244_2245del
NR_148399.1:n.2770_2771del
NR_148400.1:n.2369_2370del
XM_005272162.3:c.11_12del	XP_005272219.1:n.11_12del
XM_006716932.2:c.11_12del	XP_006716995.1:n.11_12del
XM_011518140.2:c.11_12del	XP_011516442.1:n.11_12del
XM_011518141.2:c.11_12del	XP_011516443.1:n.11_12del
XM_011518142.2:c.11_12del	XP_011516444.1:n.11_12del
XM_011518143.2:c.11_12del	XP_011516445.1:n.11_12del
XM_011518145.2:c.11_12del	XP_011516447.1:n.11_12del
XM_017014205.2:c.11_12del	XP_016869694.1:n.11_12del
XM_024447380.1:c.11_12del	XP_024303148.1:n.11_12del
XM_024447381.1:c.11_12del	XP_024303149.1:n.11_12del
XM_024447382.1:c.11_12del	XP_024303150.1:n.11_12del
XR_001746160.2:n.2359_2360del
XR_001746162.2:n.2564_2565del
XR_001746164.1:n.2281_2282del
XR_001746166.2:n.2576_2577del
NM_001077365.2:c.11_12del MANE Select	NP_001070833.1:n.11_12del
NM_001077366.2:c.11_12del	NP_001070834.1:n.11_12del
NM_001136113.2:c.11_12del	NP_001129585.1:n.11_12del
NM_001136114.2:c.11_12del	NP_001129586.1:n.11_12del
NM_001353193.2:c.11_12del	NP_001340122.2:n.11_12del
NM_001353194.2:c.11_12del	NP_001340123.1:n.11_12del
NM_001353195.2:c.11_12del	NP_001340124.1:n.11_12del
NM_001353196.2:c.11_12del	NP_001340125.1:n.11_12del
NM_001353197.2:c.11_12del	NP_001340126.2:n.11_12del
NM_001353198.2:c.11_12del	NP_001340127.2:n.11_12del
NM_001353199.2:c.11_12del	NP_001340128.2:n.11_12del
NM_001353200.2:c.11_12del	NP_001340129.1:n.11_12del
NM_001374689.1:c.11_12del	NP_001361618.1:n.11_12del
NM_001374690.1:c.11_12del	NP_001361619.1:n.11_12del
NM_001374691.1:c.11_12del	NP_001361620.1:n.11_12del
NM_001374692.1:c.11_12del	NP_001361621.1:n.11_12del
NM_001374693.1:c.11_12del	NP_001361622.1:n.11_12del
NM_001374695.1:c.11_12del	NP_001361624.1:n.11_12del
NM_007171.4:c.11_12del	NP_009102.4:n.11_12del
NR_148391.2:n.2223_2224del
NR_148392.2:n.2441_2442del
NR_148393.2:n.2362_2363del
NR_148394.2:n.2116_2117del
NR_148395.2:n.2514_2515del
NR_148396.2:n.2148_2149del
NR_148397.2:n.2273_2274del
NR_148398.2:n.2228_2229del
NR_148399.2:n.2754_2755del
NR_148400.2:n.2353_2354del

HGVS	Amino-acid Change
ENST00000341012.13:c.11_12del	ENSP00000343034.7:n.11_12del
ENST00000404875.7:n.2729_2730del
ENST00000677295.2:c.2533_2534del	ENSP00000504346.2:n.2533_2534del
ENST00000678264.2:c.2372_2373del	ENSP00000503157.2:n.2372_2373del
ENST00000682070.1:n.2499_2500del
ENST00000682639.1:c.186_187del
ENST00000682813.1:n.2586_2587del
ENST00000683231.1:c.186_187del
ENST00000683392.1:n.4781_4782del
ENST00000683900.1:n.4089_4090del
ENST00000684062.1:n.2855_2856del
ENST00000684399.1:c.186_187del
ENST00000684579.1:n.4035_4036del
ENST00000341012.12:c.11_12del	ENSP00000343034.7:n.11_12del
ENST00000372220.5:c.11_12del	ENSP00000361294.5:n.11_12del
ENST00000372228.9:c.11_12del	ENSP00000361302.3:n.11_12del
ENST00000402686.8:c.11_12del MANE Select	ENSP00000385797.4:n.11_12del
ENST00000676640.1:c.11_12del	ENSP00000503281.1:n.11_12del
ENST00000676803.1:c.11_12del	ENSP00000503093.1:n.11_12del
ENST00000676835.1:c.1404_1405del	ENSP00000502911.1:n.1404_1405del
ENST00000677029.1:c.11_12del	ENSP00000502936.1:n.11_12del
ENST00000677099.1:c.1899_1900del	ENSP00000504553.1:n.1899_1900del
ENST00000677216.1:c.11_12del	ENSP00000503772.1:n.11_12del
ENST00000677295.1:c.1411_1412del	ENSP00000504346.1:n.1411_1412del
ENST00000677444.1:c.2134_2135del
ENST00000677586.1:n.1556_1557del
ENST00000677626.1:c.11_12del	ENSP00000503552.1:n.11_12del
ENST00000677853.1:c.1197_1198del	ENSP00000503488.1:n.1197_1198del
ENST00000678303.1:c.11_12del	ENSP00000503696.1:n.11_12del
ENST00000678366.1:c.2438_2439del	ENSP00000504353.1:n.2438_2439del
ENST00000678546.1:c.2134_2135del	ENSP00000503062.1:n.2134_2135del
ENST00000678548.1:c.2328_2329del	ENSP00000503934.1:n.2328_2329del
ENST00000678626.1:n.2025_2026del
ENST00000678739.1:c.2355_2356del	ENSP00000503806.1:n.2355_2356del
ENST00000678833.1:c.1941_1942del	ENSP00000503893.1:n.1941_1942del
ENST00000679023.1:c.11_12del	ENSP00000503718.1:n.11_12del
ENST00000679076.1:c.1808_1809del
ENST00000679111.1:c.945_946del	ENSP00000504257.1:n.945_946del
ENST00000679189.1:c.11_12del	ENSP00000503356.1:n.11_12del
ENST00000341012.11:c.11_12del	ENSP00000343034.7:n.11_12del
ENST00000372220.4:c.1052_1053del	ENSP00000361294.4:n.1052_1053del
ENST00000372228.7:c.11_12del	ENSP00000361302.3:n.11_12del
ENST00000402686.7:c.11_12del	ENSP00000385797.3:n.11_12del
ENST00000404875.6:c.11_12del	ENSP00000384531.2:n.11_12del
ENST00000423007.5:c.11_12del	ENSP00000404119.1:n.11_12del
ENST00000485278.5:n.2739_2740del
NM_001077365.1:c.11_12del	NP_001070833.1:n.11_12del
NM_001077366.1:c.11_12del	NP_001070834.1:n.11_12del
NM_001136113.1:c.11_12del	NP_001129585.1:n.11_12del
NM_001136114.1:c.11_12del	NP_001129586.1:n.11_12del
NM_007171.3:c.11_12del	NP_009102.3:n.11_12del
XM_005272156.1:c.11_12del	XP_005272213.1:n.11_12del
XM_005272158.1:c.11_12del	XP_005272215.1:n.11_12del
XM_005272159.1:c.11_12del	XP_005272216.1:n.11_12del
XM_005272162.1:c.11_12del	XP_005272219.1:n.11_12del
XM_006716932.1:c.11_12del	XP_006716995.1:n.11_12del
XM_011518140.1:c.11_12del	XP_011516442.1:n.11_12del
XM_011518141.1:c.11_12del	XP_011516443.1:n.11_12del
XM_011518142.1:c.11_12del	XP_011516444.1:n.11_12del
XM_011518143.1:c.11_12del	XP_011516445.1:n.11_12del
XM_011518145.1:c.11_12del	XP_011516447.1:n.11_12del
XM_011518147.1:c.11_12del	XP_011516449.1:n.11_12del
XR_929703.1:n.2431_2432del
NM_001353193.1:c.11_12del	NP_001340122.1:n.11_12del
NM_001353194.1:c.11_12del	NP_001340123.1:n.11_12del
NM_001353195.1:c.11_12del	NP_001340124.1:n.11_12del
NM_001353196.1:c.11_12del	NP_001340125.1:n.11_12del
NM_001353197.1:c.11_12del	NP_001340126.1:n.11_12del
NM_001353198.1:c.11_12del	NP_001340127.1:n.11_12del
NM_001353199.1:c.11_12del	NP_001340128.1:n.11_12del
NM_001353200.1:c.11_12del	NP_001340129.1:n.11_12del
NR_148391.1:n.2239_2240del
NR_148392.1:n.2457_2458del
NR_148393.1:n.2378_2379del
NR_148394.1:n.2132_2133del
NR_148395.1:n.2530_2531del
NR_148396.1:n.2164_2165del
NR_148397.1:n.2289_2290del
NR_148398.1:n.2244_2245del
NR_148399.1:n.2770_2771del
NR_148400.1:n.2369_2370del
XM_005272162.3:c.11_12del	XP_005272219.1:n.11_12del
XM_006716932.2:c.11_12del	XP_006716995.1:n.11_12del
XM_011518140.2:c.11_12del	XP_011516442.1:n.11_12del
XM_011518141.2:c.11_12del	XP_011516443.1:n.11_12del
XM_011518142.2:c.11_12del	XP_011516444.1:n.11_12del
XM_011518143.2:c.11_12del	XP_011516445.1:n.11_12del
XM_011518145.2:c.11_12del	XP_011516447.1:n.11_12del
XM_017014205.2:c.11_12del	XP_016869694.1:n.11_12del
XM_024447380.1:c.11_12del	XP_024303148.1:n.11_12del
XM_024447381.1:c.11_12del	XP_024303149.1:n.11_12del
XM_024447382.1:c.11_12del	XP_024303150.1:n.11_12del
XR_001746160.2:n.2359_2360del
XR_001746162.2:n.2564_2565del
XR_001746164.1:n.2281_2282del
XR_001746166.2:n.2576_2577del
NM_001077365.2:c.11_12del MANE Select	NP_001070833.1:n.11_12del
NM_001077366.2:c.11_12del	NP_001070834.1:n.11_12del
NM_001136113.2:c.11_12del	NP_001129585.1:n.11_12del
NM_001136114.2:c.11_12del	NP_001129586.1:n.11_12del
NM_001353193.2:c.11_12del	NP_001340122.2:n.11_12del
NM_001353194.2:c.11_12del	NP_001340123.1:n.11_12del
NM_001353195.2:c.11_12del	NP_001340124.1:n.11_12del
NM_001353196.2:c.11_12del	NP_001340125.1:n.11_12del
NM_001353197.2:c.11_12del	NP_001340126.2:n.11_12del
NM_001353198.2:c.11_12del	NP_001340127.2:n.11_12del
NM_001353199.2:c.11_12del	NP_001340128.2:n.11_12del
NM_001353200.2:c.11_12del	NP_001340129.1:n.11_12del
NM_001374689.1:c.11_12del	NP_001361618.1:n.11_12del
NM_001374690.1:c.11_12del	NP_001361619.1:n.11_12del
NM_001374691.1:c.11_12del	NP_001361620.1:n.11_12del
NM_001374692.1:c.11_12del	NP_001361621.1:n.11_12del
NM_001374693.1:c.11_12del	NP_001361622.1:n.11_12del
NM_001374695.1:c.11_12del	NP_001361624.1:n.11_12del
NM_007171.4:c.11_12del	NP_009102.4:n.11_12del
NR_148391.2:n.2223_2224del
NR_148392.2:n.2441_2442del
NR_148393.2:n.2362_2363del
NR_148394.2:n.2116_2117del
NR_148395.2:n.2514_2515del
NR_148396.2:n.2148_2149del
NR_148397.2:n.2273_2274del
NR_148398.2:n.2228_2229del
NR_148399.2:n.2754_2755del
NR_148400.2:n.2353_2354del

Linked Data

Genomic Alleles

Transcript Alleles