Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108250623_108250624del , CM000673.2:g.108250623_108250624del	GRCh38
NC_000011.9:g.108121350_108121351del , CM000673.1:g.108121350_108121351del	GRCh37
NC_000011.8:g.107626560_107626561del	NCBI36
NG_009830.1:g.32792_32793del , LRG_135:g.32792_32793del

Transcript Alleles

HGVS	Amino-acid Change
NM_000051.4:c.1236-78_1236-77del MANE Select	NP_000042.3:n.1236-78_1236-77del
ENST00000675843.1:c.1236-78_1236-77del MANE Select	ENSP00000501606.1:n.1236-78_1236-77del
NM_000051.3:c.1236-78_1236-77del , LRG_135t1:c.1236-78_1236-77del	NP_000042.3:n.1236-78_1236-77del
NM_001351834.1:c.1236-78_1236-77del	NP_001338763.1:n.1236-78_1236-77del
NM_001351834.2:c.1236-78_1236-77del	NP_001338763.1:n.1236-78_1236-77del
ENST00000278616.8:c.1236-78_1236-77del	ENSP00000278616.4:n.1236-78_1236-77del
ENST00000278616.9:c.1236-78_1236-77del	ENSP00000278616.4:n.1236-78_1236-77del
ENST00000452508.6:c.1236-78_1236-77del	ENSP00000388058.2:n.1236-78_1236-77del
ENST00000452508.7:c.1236-78_1236-77del	ENSP00000388058.2:n.1236-78_1236-77del
ENST00000527805.5:c.1236-78_1236-77del	ENSP00000435747.1:n.1236-78_1236-77del
ENST00000527805.6:c.1236-78_1236-77del	ENSP00000435747.2:n.1236-78_1236-77del
ENST00000675595.1:c.1071-78_1071-77del	ENSP00000502563.1:n.1071-78_1071-77del
ENST00000682516.1:n.1370-78_1370-77del
ENST00000682956.1:n.1370-78_1370-77del
ENST00000683174.1:n.1386-78_1386-77del
ENST00000683605.1:n.731-78_731-77del
ENST00000684037.1:c.171-78_171-77del	ENSP00000508245.1:n.171-78_171-77del
ENST00000684061.1:n.1370-78_1370-77del
ENST00000684179.1:n.1205-78_1205-77del
ENST00000713593.1:c.707-78_707-77del	ENSP00000518889.1:n.707-78_707-77del
XM_005271561.3:c.1236-78_1236-77del	XP_005271618.2:n.1236-78_1236-77del
XM_005271562.3:c.1236-78_1236-77del	XP_005271619.2:n.1236-78_1236-77del
XM_005271562.5:c.1236-78_1236-77del	XP_005271619.2:n.1236-78_1236-77del
XM_006718843.2:c.1236-78_1236-77del	XP_006718906.1:n.1236-78_1236-77del
XM_006718843.4:c.1236-78_1236-77del	XP_006718906.1:n.1236-78_1236-77del
XM_011542840.1:c.1236-78_1236-77del	XP_011541142.1:n.1236-78_1236-77del
XM_011542840.3:c.1236-78_1236-77del	XP_011541142.1:n.1236-78_1236-77del
XM_011542841.1:c.1236-78_1236-77del	XP_011541143.1:n.1236-78_1236-77del
XM_011542842.1:c.1071-78_1071-77del	XP_011541144.1:n.1071-78_1071-77del
XM_011542842.3:c.1071-78_1071-77del	XP_011541144.1:n.1071-78_1071-77del
XM_011542843.1:c.1236-78_1236-77del	XP_011541145.1:n.1236-78_1236-77del
XM_011542843.2:c.1236-78_1236-77del	XP_011541145.1:n.1236-78_1236-77del
XM_011542844.1:c.192-78_192-77del	XP_011541146.1:n.192-78_192-77del
XM_011542844.3:c.192-78_192-77del	XP_011541146.1:n.192-78_192-77del
XM_011542845.1:c.-73-78_-73-77del	XP_011541147.1:n.-73-78_-73-77del
XM_011542845.2:c.-73-78_-73-77del	XP_011541147.1:n.-73-78_-73-77del
XM_011542846.1:c.1236-78_1236-77del	XP_011541148.1:n.1236-78_1236-77del
XM_017017789.2:c.1236-78_1236-77del	XP_016873278.1:n.1236-78_1236-77del
XM_017017790.2:c.1236-78_1236-77del	XP_016873279.1:n.1236-78_1236-77del
XM_017017791.1:c.1236-78_1236-77del	XP_016873280.1:n.1236-78_1236-77del
XM_017017792.2:c.1236-78_1236-77del	XP_016873281.1:n.1236-78_1236-77del
XR_002957150.1:n.1969-78_1969-77del