Canonical Allele Identifier: CA528999339

Gene: CR1

Linked Data

• dbSNP Id: rs1398631867
• gnomAD v2: 1-207697092-GGGT-G
• gnomAD v3: 1-207523747-GGGT-G
• gnomAD v4: 1-207523747-GGGT-G
• MyVariant Identifiers: chr1:g.207697093_207697095del (hg19) ; chr1:g.207523748_207523750del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.207523749_207523751del , CM000663.2:g.207523749_207523751del	GRCh38
NC_000001.10:g.207697094_207697096del , CM000663.1:g.207697094_207697096del	GRCh37
NC_000001.9:g.205763717_205763719del	NCBI36
NG_007481.1:g.32622_32624del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367049.9:c.626_628del MANE Select	ENSP00000356016.4:p.Gly209del
ENST00000367051.6:c.487+12095_487+12097del	ENSP00000356018.1:n.487+12095_487+12097del
ENST00000367052.6:c.626_628del	ENSP00000356019.1:p.Gly209del
ENST00000367053.6:c.626_628del	ENSP00000356020.1:p.Gly209del
ENST00000400960.7:c.626_628del	ENSP00000383744.2:p.Gly209del
ENST00000367049.8:c.626_628del	ENSP00000356016.4:p.Gly209del
ENST00000367050.8:n.747_749del
ENST00000367051.5:c.487+12095_487+12097del	ENSP00000356018.1:n.487+12095_487+12097del
ENST00000367052.5:c.626_628del	ENSP00000356019.1:p.Gly209del
ENST00000367053.5:c.626_628del	ENSP00000356020.1:p.Gly209del
ENST00000400960.6:c.626_628del	ENSP00000383744.2:p.Gly209del
ENST00000434033.5:n.553_555del
ENST00000436595.1:n.414+12095_414+12097del
ENST00000450439.5:n.553_555del
ENST00000529814.1:c.553_555del
ENST00000534202.5:c.626_628del	ENSP00000436139.2:p.Gly209del
NM_000573.3:c.626_628del	NP_000564.2:p.Gly209del
NM_000651.4:c.626_628del	NP_000642.3:p.Gly209del
XM_006711166.2:c.641_643del	XP_006711229.1:p.Gly214del
XM_011509205.1:c.641_643del	XP_011507507.1:p.Gly214del
NM_000651.5:c.626_628del	NP_000642.3:p.Gly209del
XM_024453287.1:c.641_643del	XP_024309055.1:p.Gly214del
NM_000573.4:c.626_628del	NP_000564.2:p.Gly209del
NM_000651.6:c.626_628del MANE Select	NP_000642.3:p.Gly209del