Canonical Allele Identifier: CA2650269920

Gene: CR1

Linked Data

• gnomAD v4: 1-207611730-GACA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.207611733_207611735del , CM000663.2:g.207611733_207611735del	GRCh38
NC_000001.10:g.207785078_207785080del , CM000663.1:g.207785078_207785080del	GRCh37
NC_000001.9:g.205851701_205851703del	NCBI36
NG_007481.1:g.120606_120608del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367049.9:c.6352_6354del MANE Select	ENSP00000356016.4:p.Asn2118del
ENST00000367051.6:c.5002_5004del	ENSP00000356018.1:p.Asn1668del
ENST00000367052.6:c.5002_5004del	ENSP00000356019.1:p.Asn1668del
ENST00000367053.6:c.5002_5004del	ENSP00000356020.1:p.Asn1668del
ENST00000400960.7:c.5002_5004del	ENSP00000383744.2:p.Asn1668del
ENST00000367049.8:c.6352_6354del	ENSP00000356016.4:p.Asn2118del
ENST00000367051.5:c.5002_5004del	ENSP00000356018.1:p.Asn1668del
ENST00000367052.5:c.5002_5004del	ENSP00000356019.1:p.Asn1668del
ENST00000367053.5:c.5002_5004del	ENSP00000356020.1:p.Asn1668del
ENST00000400960.6:c.5002_5004del	ENSP00000383744.2:p.Asn1668del
ENST00000529814.1:c.1180-4842_1180-4840del
NM_000573.3:c.5002_5004del	NP_000564.2:p.Asn1668del
NM_000651.4:c.6352_6354del	NP_000642.3:p.Asn2118del
XM_006711166.2:c.6367_6369del	XP_006711229.1:p.Asn2123del
XM_011509205.1:c.6367_6369del	XP_011507507.1:p.Asn2123del
NM_000651.5:c.6352_6354del	NP_000642.3:p.Asn2118del
XM_024453287.1:c.5017_5019del	XP_024309055.1:p.Asn1673del
NM_000573.4:c.5002_5004del	NP_000564.2:p.Asn1668del
NM_000651.6:c.6352_6354del MANE Select	NP_000642.3:p.Asn2118del