Canonical Allele Identifier: CA645532262

Gene: CR1

Linked Data

• COSMIC: COSM4748183 ; COSM4748184

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.207523812del , CM000663.2:g.207523812del	GRCh38
NC_000001.10:g.207697157del , CM000663.1:g.207697157del	GRCh37
NC_000001.9:g.205763780del	NCBI36
NG_007481.1:g.32685del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367049.9:c.689del MANE Select	ENSP00000356016.4:p.Pro230LeufsTer29
ENST00000367051.6:c.487+12158del	ENSP00000356018.1:n.487+12158del
ENST00000367052.6:c.689del	ENSP00000356019.1:p.Pro230LeufsTer29
ENST00000367053.6:c.689del	ENSP00000356020.1:p.Pro230LeufsTer29
ENST00000400960.7:c.689del	ENSP00000383744.2:p.Pro230LeufsTer29
ENST00000367049.8:c.689del	ENSP00000356016.4:p.Pro230LeufsTer29
ENST00000367050.8:n.810del
ENST00000367051.5:c.487+12158del	ENSP00000356018.1:n.487+12158del
ENST00000367052.5:c.689del	ENSP00000356019.1:p.Pro230LeufsTer29
ENST00000367053.5:c.689del	ENSP00000356020.1:p.Pro230LeufsTer29
ENST00000400960.6:c.689del	ENSP00000383744.2:p.Pro230LeufsTer29
ENST00000434033.5:n.616del
ENST00000436595.1:n.414+12158del
ENST00000450439.5:n.616del
ENST00000529814.1:c.616del
ENST00000534202.5:c.689del	ENSP00000436139.2:p.Pro230LeufsTer29
NM_000573.3:c.689del	NP_000564.2:p.Pro230LeufsTer29
NM_000651.4:c.689del	NP_000642.3:p.Pro230LeufsTer29
XM_006711166.2:c.704del	XP_006711229.1:p.Pro235LeufsTer29
XM_011509205.1:c.704del	XP_011507507.1:p.Pro235LeufsTer29
NM_000651.5:c.689del	NP_000642.3:p.Pro230LeufsTer29
XM_024453287.1:c.704del	XP_024309055.1:p.Pro235LeufsTer29
NM_000573.4:c.689del	NP_000564.2:p.Pro230LeufsTer29
NM_000651.6:c.689del MANE Select	NP_000642.3:p.Pro230LeufsTer29