Canonical Allele Identifier: CA730639930

Gene: CR1

Linked Data

• dbSNP Id: rs1283288288
• gnomAD v3: 1-207580175-GT-G
• gnomAD v4: 1-207580175-GT-G
• MyVariant Identifiers: chr1:g.207753521del (hg19) ; chr1:g.207580176del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.207580176del , CM000663.2:g.207580176del	GRCh38
NC_000001.10:g.207753521del , CM000663.1:g.207753521del	GRCh37
NC_000001.9:g.205820144del	NCBI36
NG_007481.1:g.89049del

Transcript Alleles

HGVS	Amino-acid change
ENST00000367049.9:c.4937-64del MANE Select	ENSP00000356016.4:n.4937-64del
ENST00000367051.6:c.3587-64del	ENSP00000356018.1:n.3587-64del
ENST00000367052.6:c.3587-64del	ENSP00000356019.1:n.3587-64del
ENST00000367053.6:c.3587-64del	ENSP00000356020.1:n.3587-64del
ENST00000400960.7:c.3587-64del	ENSP00000383744.2:n.3587-64del
ENST00000367049.8:c.4937-64del	ENSP00000356016.4:n.4937-64del
ENST00000367051.5:c.3587-64del	ENSP00000356018.1:n.3587-64del
ENST00000367052.5:c.3587-64del	ENSP00000356019.1:n.3587-64del
ENST00000367053.5:c.3587-64del	ENSP00000356020.1:n.3587-64del
ENST00000400960.6:c.3587-64del	ENSP00000383744.2:n.3587-64del
ENST00000529814.1:c.1179+14253del
ENST00000534202.5:c.*702-64del	ENSP00000436139.2:n.*702-64del
NM_000573.3:c.3587-64del	NP_000564.2:n.3587-64del
NM_000651.4:c.4937-64del	NP_000642.3:n.4937-64del
XM_006711166.2:c.4952-64del	XP_006711229.1:n.4952-64del
XM_011509205.1:c.4952-64del	XP_011507507.1:n.4952-64del
NM_000651.5:c.4937-64del	NP_000642.3:n.4937-64del
XM_024453287.1:c.3602-64del	XP_024309055.1:n.3602-64del
NM_000573.4:c.3587-64del	NP_000564.2:n.3587-64del
NM_000651.6:c.4937-64del MANE Select	NP_000642.3:n.4937-64del