Canonical Allele Identifier: CA2650268375

Gene: CR1

Linked Data

• gnomAD v4: 1-207580290-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.207580291del , CM000663.2:g.207580291del	GRCh38
NC_000001.10:g.207753636del , CM000663.1:g.207753636del	GRCh37
NC_000001.9:g.205820259del	NCBI36
NG_007481.1:g.89164del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367049.9:c.4988del MANE Select	ENSP00000356016.4:p.Gln1663ArgfsTer?
ENST00000367051.6:c.3638del	ENSP00000356018.1:p.Gln1213ArgfsTer?
ENST00000367052.6:c.3638del	ENSP00000356019.1:p.Gln1213ArgfsTer?
ENST00000367053.6:c.3638del	ENSP00000356020.1:p.Gln1213ArgfsTer?
ENST00000400960.7:c.3638del	ENSP00000383744.2:p.Gln1213ArgfsTer?
ENST00000367049.8:c.4988del	ENSP00000356016.4:p.Gln1663ArgfsTer?
ENST00000367051.5:c.3638del	ENSP00000356018.1:p.Gln1213ArgfsTer?
ENST00000367052.5:c.3638del	ENSP00000356019.1:p.Gln1213ArgfsTer?
ENST00000367053.5:c.3638del	ENSP00000356020.1:p.Gln1213ArgfsTer?
ENST00000400960.6:c.3638del	ENSP00000383744.2:p.Gln1213ArgfsTer?
ENST00000529814.1:c.1179+14368del
ENST00000534202.5:c.*753del	ENSP00000436139.2:n.*753del
NM_000573.3:c.3638del	NP_000564.2:p.Gln1213ArgfsTer?
NM_000651.4:c.4988del	NP_000642.3:p.Gln1663ArgfsTer?
XM_006711166.2:c.5003del	XP_006711229.1:p.Gln1668ArgfsTer?
XM_011509205.1:c.5003del	XP_011507507.1:p.Gln1668ArgfsTer?
NM_000651.5:c.4988del	NP_000642.3:p.Gln1663ArgfsTer?
XM_024453287.1:c.3653del	XP_024309055.1:p.Gln1218ArgfsTer?
NM_000573.4:c.3638del	NP_000564.2:p.Gln1213ArgfsTer?
NM_000651.6:c.4988del MANE Select	NP_000642.3:p.Gln1663ArgfsTer?