Canonical Allele Identifier: CA2650269922

Gene: CR1

Linked Data

• gnomAD v4: 1-207611838-GCCCCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.207611839_207611843del , CM000663.2:g.207611839_207611843del	GRCh38
NC_000001.10:g.207785184_207785188del , CM000663.1:g.207785184_207785188del	GRCh37
NC_000001.9:g.205851807_205851811del	NCBI36
NG_007481.1:g.120712_120716del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367049.9:c.6458_6462del MANE Select	ENSP00000356016.4:p.Ala2153GlufsTer8
ENST00000367051.6:c.5108_5112del	ENSP00000356018.1:p.Ala1703GlufsTer8
ENST00000367052.6:c.5108_5112del	ENSP00000356019.1:p.Ala1703GlufsTer8
ENST00000367053.6:c.5108_5112del	ENSP00000356020.1:p.Ala1703GlufsTer8
ENST00000400960.7:c.5108_5112del	ENSP00000383744.2:p.Ala1703GlufsTer8
ENST00000367049.8:c.6458_6462del	ENSP00000356016.4:p.Ala2153GlufsTer8
ENST00000367051.5:c.5108_5112del	ENSP00000356018.1:p.Ala1703GlufsTer8
ENST00000367052.5:c.5108_5112del	ENSP00000356019.1:p.Ala1703GlufsTer8
ENST00000367053.5:c.5108_5112del	ENSP00000356020.1:p.Ala1703GlufsTer8
ENST00000400960.6:c.5108_5112del	ENSP00000383744.2:p.Ala1703GlufsTer8
ENST00000529814.1:c.1180-4736_1180-4732del
NM_000573.3:c.5108_5112del	NP_000564.2:p.Ala1703GlufsTer8
NM_000651.4:c.6458_6462del	NP_000642.3:p.Ala2153GlufsTer8
XM_006711166.2:c.6473_6477del	XP_006711229.1:p.Ala2158GlufsTer8
XM_011509205.1:c.6473_6477del	XP_011507507.1:p.Ala2158GlufsTer8
NM_000651.5:c.6458_6462del	NP_000642.3:p.Ala2153GlufsTer8
XM_024453287.1:c.5123_5127del	XP_024309055.1:p.Ala1708GlufsTer8
NM_000573.4:c.5108_5112del	NP_000564.2:p.Ala1703GlufsTer8
NM_000651.6:c.6458_6462del MANE Select	NP_000642.3:p.Ala2153GlufsTer8