Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108250620_108250627del , CM000673.2:g.108250620_108250627del	GRCh38
NC_000011.9:g.108121347_108121354del , CM000673.1:g.108121347_108121354del	GRCh37
NC_000011.8:g.107626557_107626564del	NCBI36
NG_009830.1:g.32789_32796del , LRG_135:g.32789_32796del

Transcript Alleles

HGVS	Amino-acid Change
NM_000051.4:c.1236-81_1236-74del MANE Select	NP_000042.3:n.1236-81_1236-74del
ENST00000675843.1:c.1236-81_1236-74del MANE Select	ENSP00000501606.1:n.1236-81_1236-74del
NM_000051.3:c.1236-81_1236-74del , LRG_135t1:c.1236-81_1236-74del	NP_000042.3:n.1236-81_1236-74del
NM_001351834.1:c.1236-81_1236-74del	NP_001338763.1:n.1236-81_1236-74del
NM_001351834.2:c.1236-81_1236-74del	NP_001338763.1:n.1236-81_1236-74del
ENST00000278616.8:c.1236-81_1236-74del	ENSP00000278616.4:n.1236-81_1236-74del
ENST00000278616.9:c.1236-81_1236-74del	ENSP00000278616.4:n.1236-81_1236-74del
ENST00000452508.6:c.1236-81_1236-74del	ENSP00000388058.2:n.1236-81_1236-74del
ENST00000452508.7:c.1236-81_1236-74del	ENSP00000388058.2:n.1236-81_1236-74del
ENST00000527805.5:c.1236-81_1236-74del	ENSP00000435747.1:n.1236-81_1236-74del
ENST00000527805.6:c.1236-81_1236-74del	ENSP00000435747.2:n.1236-81_1236-74del
ENST00000675595.1:c.1071-81_1071-74del	ENSP00000502563.1:n.1071-81_1071-74del
ENST00000682516.1:n.1370-81_1370-74del
ENST00000682956.1:n.1370-81_1370-74del
ENST00000683174.1:n.1386-81_1386-74del
ENST00000683605.1:n.731-81_731-74del
ENST00000684037.1:c.171-81_171-74del	ENSP00000508245.1:n.171-81_171-74del
ENST00000684061.1:n.1370-81_1370-74del
ENST00000684179.1:n.1205-81_1205-74del
ENST00000713593.1:c.707-81_707-74del	ENSP00000518889.1:n.707-81_707-74del
XM_005271561.3:c.1236-81_1236-74del	XP_005271618.2:n.1236-81_1236-74del
XM_005271562.3:c.1236-81_1236-74del	XP_005271619.2:n.1236-81_1236-74del
XM_005271562.5:c.1236-81_1236-74del	XP_005271619.2:n.1236-81_1236-74del
XM_006718843.2:c.1236-81_1236-74del	XP_006718906.1:n.1236-81_1236-74del
XM_006718843.4:c.1236-81_1236-74del	XP_006718906.1:n.1236-81_1236-74del
XM_011542840.1:c.1236-81_1236-74del	XP_011541142.1:n.1236-81_1236-74del
XM_011542840.3:c.1236-81_1236-74del	XP_011541142.1:n.1236-81_1236-74del
XM_011542841.1:c.1236-81_1236-74del	XP_011541143.1:n.1236-81_1236-74del
XM_011542842.1:c.1071-81_1071-74del	XP_011541144.1:n.1071-81_1071-74del
XM_011542842.3:c.1071-81_1071-74del	XP_011541144.1:n.1071-81_1071-74del
XM_011542843.1:c.1236-81_1236-74del	XP_011541145.1:n.1236-81_1236-74del
XM_011542843.2:c.1236-81_1236-74del	XP_011541145.1:n.1236-81_1236-74del
XM_011542844.1:c.192-81_192-74del	XP_011541146.1:n.192-81_192-74del
XM_011542844.3:c.192-81_192-74del	XP_011541146.1:n.192-81_192-74del
XM_011542845.1:c.-73-81_-73-74del	XP_011541147.1:n.-73-81_-73-74del
XM_011542845.2:c.-73-81_-73-74del	XP_011541147.1:n.-73-81_-73-74del
XM_011542846.1:c.1236-81_1236-74del	XP_011541148.1:n.1236-81_1236-74del
XM_017017789.2:c.1236-81_1236-74del	XP_016873278.1:n.1236-81_1236-74del
XM_017017790.2:c.1236-81_1236-74del	XP_016873279.1:n.1236-81_1236-74del
XM_017017791.1:c.1236-81_1236-74del	XP_016873280.1:n.1236-81_1236-74del
XM_017017792.2:c.1236-81_1236-74del	XP_016873281.1:n.1236-81_1236-74del
XR_002957150.1:n.1969-81_1969-74del