Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145307G= , CM000669.2:g.44145307G=	GRCh38
NC_000007.13:g.44184906G= , CM000669.1:g.44184906G=	GRCh37
NC_000007.12:g.44151431G=	NCBI36
NG_008847.1:g.49117C=
NG_008847.2:g.57864C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1252-27C=	ENSP00000379142.4:n.*1252-27C=
ENST00000616242.5:c.*374-27C=	ENSP00000482149.2:n.*374-27C=
ENST00000683378.1:n.480-27C=
ENST00000336642.9:c.288-27C=	ENSP00000338009.5:n.288-27C=
ENST00000345378.7:c.1257-27C=	ENSP00000223366.2:n.1257-27C=
ENST00000403799.8:c.1254-27C= MANE Select	ENSP00000384247.3:n.1254-27C=
ENST00000671824.1:c.1317-27C=	ENSP00000500264.1:n.1317-27C=
ENST00000672743.1:n.266-27C=
ENST00000673284.1:c.1254-27C=	ENSP00000499852.1:n.1254-27C=
ENST00000336642.8:c.306-27C=	ENSP00000338009.4:n.306-27C=
ENST00000345378.6:c.1257-27C=	ENSP00000223366.2:n.1257-27C=
ENST00000395796.7:c.1251-27C=	ENSP00000379142.3:n.1251-27C=
ENST00000403799.7:c.1254-27C=	ENSP00000384247.3:n.1254-27C=
ENST00000437084.1:c.1203-27C=	ENSP00000402840.1:n.1203-27C=
ENST00000459642.1:n.634-27C=
ENST00000616242.4:c.1251-27C=	ENSP00000482149.1:n.1251-27C=
NM_000162.3:c.1254-27C=	NP_000153.1:n.1254-27C=
NM_033507.1:c.1257-27C=	NP_277042.1:n.1257-27C=
NM_033508.1:c.1251-27C=	NP_277043.1:n.1251-27C=
NM_000162.4:c.1254-27C=	NP_000153.1:n.1254-27C=
NM_001354800.1:c.1254-27C=	NP_001341729.1:n.1254-27C=
NM_001354801.1:c.243-27C=	NP_001341730.1:n.243-27C=
NM_001354802.1:c.114-27C=	NP_001341731.1:n.114-27C=
NM_001354803.1:c.288-27C=	NP_001341732.1:n.288-27C=
NM_033507.2:c.1257-27C=	NP_277042.1:n.1257-27C=
NM_033508.2:c.1251-27C=	NP_277043.1:n.1251-27C=
XM_024446707.1:c.114-27C=	XP_024302475.1:n.114-27C=
NM_000162.5:c.1254-27C= MANE Select	NP_000153.1:n.1254-27C=
NM_033507.3:c.1257-27C=	NP_277042.1:n.1257-27C=
NM_033508.3:c.1251-27C=	NP_277043.1:n.1251-27C=
NM_001354803.2:c.288-27C=	NP_001341732.1:n.288-27C=