Canonical Allele Identifier: CA2527680478

Gene: CR1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.207611828_207611835dup , CM000663.2:g.207611828_207611835dup	GRCh38
NC_000001.10:g.207785173_207785180dup , CM000663.1:g.207785173_207785180dup	GRCh37
NC_000001.9:g.205851796_205851803dup	NCBI36
NG_007481.1:g.120701_120708dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367049.9:c.6447_6454dup MANE Select	ENSP00000356016.4:p.Glu2152GlyfsTer10
ENST00000367051.6:c.5097_5104dup	ENSP00000356018.1:p.Glu1702GlyfsTer10
ENST00000367052.6:c.5097_5104dup	ENSP00000356019.1:p.Glu1702GlyfsTer10
ENST00000367053.6:c.5097_5104dup	ENSP00000356020.1:p.Glu1702GlyfsTer10
ENST00000400960.7:c.5097_5104dup	ENSP00000383744.2:p.Glu1702GlyfsTer10
ENST00000367049.8:c.6447_6454dup	ENSP00000356016.4:p.Glu2152GlyfsTer10
ENST00000367051.5:c.5097_5104dup	ENSP00000356018.1:p.Glu1702GlyfsTer10
ENST00000367052.5:c.5097_5104dup	ENSP00000356019.1:p.Glu1702GlyfsTer10
ENST00000367053.5:c.5097_5104dup	ENSP00000356020.1:p.Glu1702GlyfsTer10
ENST00000400960.6:c.5097_5104dup	ENSP00000383744.2:p.Glu1702GlyfsTer10
ENST00000529814.1:c.1180-4747_1180-4740dup
NM_000573.3:c.5097_5104dup	NP_000564.2:p.Glu1702GlyfsTer10
NM_000651.4:c.6447_6454dup	NP_000642.3:p.Glu2152GlyfsTer10
XM_006711166.2:c.6462_6469dup	XP_006711229.1:p.Glu2157GlyfsTer10
XM_011509205.1:c.6462_6469dup	XP_011507507.1:p.Glu2157GlyfsTer10
NM_000651.5:c.6447_6454dup	NP_000642.3:p.Glu2152GlyfsTer10
XM_024453287.1:c.5112_5119dup	XP_024309055.1:p.Glu1707GlyfsTer10
NM_000573.4:c.5097_5104dup	NP_000564.2:p.Glu1702GlyfsTer10
NM_000651.6:c.6447_6454dup MANE Select	NP_000642.3:p.Glu2152GlyfsTer10