Canonical Allele Identifier: CA528999500

Gene: CR1

Linked Data

• dbSNP Id: rs1355906430
• gnomAD v2: 1-207785060-AC-A
• gnomAD v4: 1-207611715-AC-A
• MyVariant Identifiers: chr1:g.207785061del (hg19) ; chr1:g.207611716del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.207611718del , CM000663.2:g.207611718del	GRCh38
NC_000001.10:g.207785063del , CM000663.1:g.207785063del	GRCh37
NC_000001.9:g.205851686del	NCBI36
NG_007481.1:g.120591del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367049.9:c.6337del MANE Select	ENSP00000356016.4:p.Leu2113Ter
ENST00000367051.6:c.4987del	ENSP00000356018.1:p.Leu1663Ter
ENST00000367052.6:c.4987del	ENSP00000356019.1:p.Leu1663Ter
ENST00000367053.6:c.4987del	ENSP00000356020.1:p.Leu1663Ter
ENST00000400960.7:c.4987del	ENSP00000383744.2:p.Leu1663Ter
ENST00000367049.8:c.6337del	ENSP00000356016.4:p.Leu2113Ter
ENST00000367051.5:c.4987del	ENSP00000356018.1:p.Leu1663Ter
ENST00000367052.5:c.4987del	ENSP00000356019.1:p.Leu1663Ter
ENST00000367053.5:c.4987del	ENSP00000356020.1:p.Leu1663Ter
ENST00000400960.6:c.4987del	ENSP00000383744.2:p.Leu1663Ter
ENST00000529814.1:c.1180-4857del
NM_000573.3:c.4987del	NP_000564.2:p.Leu1663Ter
NM_000651.4:c.6337del	NP_000642.3:p.Leu2113Ter
XM_006711166.2:c.6352del	XP_006711229.1:p.Leu2118Ter
XM_011509205.1:c.6352del	XP_011507507.1:p.Leu2118Ter
NM_000651.5:c.6337del	NP_000642.3:p.Leu2113Ter
XM_024453287.1:c.5002del	XP_024309055.1:p.Leu1668Ter
NM_000573.4:c.4987del	NP_000564.2:p.Leu1663Ter
NM_000651.6:c.6337del MANE Select	NP_000642.3:p.Leu2113Ter