Canonical Allele Identifier: CA2650266357

Gene: CR1

Linked Data

• gnomAD v4: 1-207523606-TCCAGGAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.207523607_207523613del , CM000663.2:g.207523607_207523613del	GRCh38
NC_000001.10:g.207696952_207696958del , CM000663.1:g.207696952_207696958del	GRCh37
NC_000001.9:g.205763575_205763581del	NCBI36
NG_007481.1:g.32480_32486del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367049.9:c.488-4_490del
ENST00000367051.6:c.487+11953_487+11959del	ENSP00000356018.1:n.487+11953_487+11959del
ENST00000367052.6:c.488-4_490del
ENST00000367053.6:c.488-4_490del
ENST00000400960.7:c.488-4_490del
ENST00000367049.8:c.488-4_490del
ENST00000367050.8:n.609-4_611del
ENST00000367051.5:c.487+11953_487+11959del	ENSP00000356018.1:n.487+11953_487+11959del
ENST00000367052.5:c.488-4_490del
ENST00000367053.5:c.488-4_490del
ENST00000400960.6:c.488-4_490del
ENST00000434033.5:n.415-4_417del
ENST00000436595.1:n.414+11953_414+11959del
ENST00000450439.5:n.415-4_417del
ENST00000529814.1:c.415-4_417del
ENST00000534202.5:c.488-4_490del
NM_000573.3:c.488-4_490del
NM_000651.4:c.488-4_490del
XM_006711166.2:c.503-4_505del
XM_011509205.1:c.503-4_505del
NM_000651.5:c.488-4_490del
XM_024453287.1:c.503-4_505del
NM_000573.4:c.488-4_490del
NM_000651.6:c.488-4_490del