Canonical Allele Identifier: CA730633333

Gene: CR1

Linked Data

• dbSNP Id: rs1295514167
• gnomAD v3: 1-207611735-CT-C
• gnomAD v4: 1-207611735-CT-C
• MyVariant Identifiers: chr1:g.207785081del (hg19) ; chr1:g.207611736del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.207611739del , CM000663.2:g.207611739del	GRCh38
NC_000001.10:g.207785084del , CM000663.1:g.207785084del	GRCh37
NC_000001.9:g.205851707del	NCBI36
NG_007481.1:g.120612del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367049.9:c.6358del MANE Select	ENSP00000356016.4:p.Ser2120HisfsTer?
ENST00000367051.6:c.5008del	ENSP00000356018.1:p.Ser1670HisfsTer?
ENST00000367052.6:c.5008del	ENSP00000356019.1:p.Ser1670HisfsTer?
ENST00000367053.6:c.5008del	ENSP00000356020.1:p.Ser1670HisfsTer?
ENST00000400960.7:c.5008del	ENSP00000383744.2:p.Ser1670HisfsTer?
ENST00000367049.8:c.6358del	ENSP00000356016.4:p.Ser2120HisfsTer?
ENST00000367051.5:c.5008del	ENSP00000356018.1:p.Ser1670HisfsTer?
ENST00000367052.5:c.5008del	ENSP00000356019.1:p.Ser1670HisfsTer?
ENST00000367053.5:c.5008del	ENSP00000356020.1:p.Ser1670HisfsTer?
ENST00000400960.6:c.5008del	ENSP00000383744.2:p.Ser1670HisfsTer?
ENST00000529814.1:c.1180-4836del
NM_000573.3:c.5008del	NP_000564.2:p.Ser1670HisfsTer?
NM_000651.4:c.6358del	NP_000642.3:p.Ser2120HisfsTer?
XM_006711166.2:c.6373del	XP_006711229.1:p.Ser2125HisfsTer?
XM_011509205.1:c.6373del	XP_011507507.1:p.Ser2125HisfsTer?
NM_000651.5:c.6358del	NP_000642.3:p.Ser2120HisfsTer?
XM_024453287.1:c.5023del	XP_024309055.1:p.Ser1675HisfsTer?
NM_000573.4:c.5008del	NP_000564.2:p.Ser1670HisfsTer?
NM_000651.6:c.6358del MANE Select	NP_000642.3:p.Ser2120HisfsTer?