Canonical Allele Identifier: CA2483433272

Gene: CR1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.207523904_207523905delinsGT , CM000663.2:g.207523904_207523905delinsGT	GRCh38
NC_000001.10:g.207697249_207697250delinsGT , CM000663.1:g.207697249_207697250delinsGT	GRCh37
NC_000001.9:g.205763872_205763873delinsGT	NCBI36
NG_007481.1:g.32777_32778delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367049.9:c.781_782delinsGT MANE Select	ENSP00000356016.4:p.Val261=
ENST00000367051.6:c.487+12250_487+12251delinsGT	ENSP00000356018.1:n.487+12250_487+12251delinsGT
ENST00000367052.6:c.781_782delinsGT	ENSP00000356019.1:p.Val261=
ENST00000367053.6:c.781_782delinsGT	ENSP00000356020.1:p.Val261=
ENST00000400960.7:c.781_782delinsGT	ENSP00000383744.2:p.Val261=
ENST00000367049.8:c.781_782delinsGT	ENSP00000356016.4:p.Val261=
ENST00000367050.8:n.902_903delinsGT
ENST00000367051.5:c.487+12250_487+12251delinsGT	ENSP00000356018.1:n.487+12250_487+12251delinsGT
ENST00000367052.5:c.781_782delinsGT	ENSP00000356019.1:p.Val261=
ENST00000367053.5:c.781_782delinsGT	ENSP00000356020.1:p.Val261=
ENST00000400960.6:c.781_782delinsGT	ENSP00000383744.2:p.Val261=
ENST00000434033.5:n.708_709delinsGT
ENST00000436595.1:n.414+12250_414+12251delinsGT
ENST00000450439.5:n.708_709delinsGT
ENST00000529814.1:c.708_709delinsGT
ENST00000534202.5:c.781_782delinsGT	ENSP00000436139.2:p.Val261=
NM_000573.3:c.781_782delinsGT	NP_000564.2:p.Val261=
NM_000651.4:c.781_782delinsGT	NP_000642.3:p.Val261=
XM_006711166.2:c.796_797delinsGT	XP_006711229.1:p.Val266=
XM_011509205.1:c.796_797delinsGT	XP_011507507.1:p.Val266=
NM_000651.5:c.781_782delinsGT	NP_000642.3:p.Val261=
XM_024453287.1:c.796_797delinsGT	XP_024309055.1:p.Val266=
NM_000573.4:c.781_782delinsGT	NP_000564.2:p.Val261=
NM_000651.6:c.781_782delinsGT MANE Select	NP_000642.3:p.Val261=