Canonical Allele Identifier: CA2650266359

Gene: CR1

Linked Data

• gnomAD v4: 1-207523771-CAGCAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.207523772_207523776del , CM000663.2:g.207523772_207523776del	GRCh38
NC_000001.10:g.207697117_207697121del , CM000663.1:g.207697117_207697121del	GRCh37
NC_000001.9:g.205763740_205763744del	NCBI36
NG_007481.1:g.32645_32649del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367049.9:c.649_653del MANE Select	ENSP00000356016.4:p.Ser217Ter
ENST00000367051.6:c.487+12118_487+12122del	ENSP00000356018.1:n.487+12118_487+12122del
ENST00000367052.6:c.649_653del	ENSP00000356019.1:p.Ser217Ter
ENST00000367053.6:c.649_653del	ENSP00000356020.1:p.Ser217Ter
ENST00000400960.7:c.649_653del	ENSP00000383744.2:p.Ser217Ter
ENST00000367049.8:c.649_653del	ENSP00000356016.4:p.Ser217Ter
ENST00000367050.8:n.770_774del
ENST00000367051.5:c.487+12118_487+12122del	ENSP00000356018.1:n.487+12118_487+12122del
ENST00000367052.5:c.649_653del	ENSP00000356019.1:p.Ser217Ter
ENST00000367053.5:c.649_653del	ENSP00000356020.1:p.Ser217Ter
ENST00000400960.6:c.649_653del	ENSP00000383744.2:p.Ser217Ter
ENST00000434033.5:n.576_580del
ENST00000436595.1:n.414+12118_414+12122del
ENST00000450439.5:n.576_580del
ENST00000529814.1:c.576_580del
ENST00000534202.5:c.649_653del	ENSP00000436139.2:p.Ser217Ter
NM_000573.3:c.649_653del	NP_000564.2:p.Ser217Ter
NM_000651.4:c.649_653del	NP_000642.3:p.Ser217Ter
XM_006711166.2:c.664_668del	XP_006711229.1:p.Ser222Ter
XM_011509205.1:c.664_668del	XP_011507507.1:p.Ser222Ter
NM_000651.5:c.649_653del	NP_000642.3:p.Ser217Ter
XM_024453287.1:c.664_668del	XP_024309055.1:p.Ser222Ter
NM_000573.4:c.649_653del	NP_000564.2:p.Ser217Ter
NM_000651.6:c.649_653del MANE Select	NP_000642.3:p.Ser217Ter