Canonical Allele Identifier: CA2483433211

Gene: CR1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.207523747_207523750delinsGGGT , CM000663.2:g.207523747_207523750delinsGGGT	GRCh38
NC_000001.10:g.207697092_207697095delinsGGGT , CM000663.1:g.207697092_207697095delinsGGGT	GRCh37
NC_000001.9:g.205763715_205763718delinsGGGT	NCBI36
NG_007481.1:g.32620_32623delinsGGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367049.9:c.624_627delinsGGGT MANE Select	ENSP00000356016.4:p.Val208=
ENST00000367051.6:c.487+12093_487+12096delinsGGGT	ENSP00000356018.1:n.487+12093_487+12096delinsGGGT
ENST00000367052.6:c.624_627delinsGGGT	ENSP00000356019.1:p.Val208=
ENST00000367053.6:c.624_627delinsGGGT	ENSP00000356020.1:p.Val208=
ENST00000400960.7:c.624_627delinsGGGT	ENSP00000383744.2:p.Val208=
ENST00000367049.8:c.624_627delinsGGGT	ENSP00000356016.4:p.Val208=
ENST00000367050.8:n.745_748delinsGGGT
ENST00000367051.5:c.487+12093_487+12096delinsGGGT	ENSP00000356018.1:n.487+12093_487+12096delinsGGGT
ENST00000367052.5:c.624_627delinsGGGT	ENSP00000356019.1:p.Val208=
ENST00000367053.5:c.624_627delinsGGGT	ENSP00000356020.1:p.Val208=
ENST00000400960.6:c.624_627delinsGGGT	ENSP00000383744.2:p.Val208=
ENST00000434033.5:n.551_554delinsGGGT
ENST00000436595.1:n.414+12093_414+12096delinsGGGT
ENST00000450439.5:n.551_554delinsGGGT
ENST00000529814.1:c.551_554delinsGGGT
ENST00000534202.5:c.624_627delinsGGGT	ENSP00000436139.2:p.Val208=
NM_000573.3:c.624_627delinsGGGT	NP_000564.2:p.Val208=
NM_000651.4:c.624_627delinsGGGT	NP_000642.3:p.Val208=
XM_006711166.2:c.639_642delinsGGGT	XP_006711229.1:p.Val213=
XM_011509205.1:c.639_642delinsGGGT	XP_011507507.1:p.Val213=
NM_000651.5:c.624_627delinsGGGT	NP_000642.3:p.Val208=
XM_024453287.1:c.639_642delinsGGGT	XP_024309055.1:p.Val213=
NM_000573.4:c.624_627delinsGGGT	NP_000564.2:p.Val208=
NM_000651.6:c.624_627delinsGGGT MANE Select	NP_000642.3:p.Val208=