Canonical Allele Identifier: CA2650266360

Gene: CR1

Linked Data

• gnomAD v4: 1-207523867-GGTATCTGACAACA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.207523869_207523881del , CM000663.2:g.207523869_207523881del	GRCh38
NC_000001.10:g.207697214_207697226del , CM000663.1:g.207697214_207697226del	GRCh37
NC_000001.9:g.205763837_205763849del	NCBI36
NG_007481.1:g.32742_32754del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367049.9:c.746_758del MANE Select	ENSP00000356016.4:p.Val249GlufsTer6
ENST00000367051.6:c.487+12215_487+12227del	ENSP00000356018.1:n.487+12215_487+12227del
ENST00000367052.6:c.746_758del	ENSP00000356019.1:p.Val249GlufsTer6
ENST00000367053.6:c.746_758del	ENSP00000356020.1:p.Val249GlufsTer6
ENST00000400960.7:c.746_758del	ENSP00000383744.2:p.Val249GlufsTer6
ENST00000367049.8:c.746_758del	ENSP00000356016.4:p.Val249GlufsTer6
ENST00000367050.8:n.867_879del
ENST00000367051.5:c.487+12215_487+12227del	ENSP00000356018.1:n.487+12215_487+12227del
ENST00000367052.5:c.746_758del	ENSP00000356019.1:p.Val249GlufsTer6
ENST00000367053.5:c.746_758del	ENSP00000356020.1:p.Val249GlufsTer6
ENST00000400960.6:c.746_758del	ENSP00000383744.2:p.Val249GlufsTer6
ENST00000434033.5:n.673_685del
ENST00000436595.1:n.414+12215_414+12227del
ENST00000450439.5:n.673_685del
ENST00000529814.1:c.673_685del
ENST00000534202.5:c.746_758del	ENSP00000436139.2:p.Val249GlufsTer6
NM_000573.3:c.746_758del	NP_000564.2:p.Val249GlufsTer6
NM_000651.4:c.746_758del	NP_000642.3:p.Val249GlufsTer6
XM_006711166.2:c.761_773del	XP_006711229.1:p.Val254GlufsTer6
XM_011509205.1:c.761_773del	XP_011507507.1:p.Val254GlufsTer6
NM_000651.5:c.746_758del	NP_000642.3:p.Val249GlufsTer6
XM_024453287.1:c.761_773del	XP_024309055.1:p.Val254GlufsTer6
NM_000573.4:c.746_758del	NP_000564.2:p.Val249GlufsTer6
NM_000651.6:c.746_758del MANE Select	NP_000642.3:p.Val249GlufsTer6