Canonical Allele Identifier: CA2704889302

Gene: CCDC50

Linked Data

• dbSNP Id: rs2108648199

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.191357090_191357091del , CM000665.2:g.191357090_191357091del	GRCh38
NC_000003.11:g.191074879_191074880del , CM000665.1:g.191074879_191074880del	GRCh37
NC_000003.10:g.192557573_192557574del	NCBI36
NG_008994.1:g.33006_33007del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392455.9:c.52_53del MANE Select	ENSP00000376249.4:p.Cys18ProfsTer21
ENST00000392456.4:c.52_53del	ENSP00000376250.4:p.Cys18ProfsTer21
ENST00000392455.7:c.52_53del	ENSP00000376249.3:p.Cys18ProfsTer21
ENST00000392456.3:c.52_53del	ENSP00000376250.3:p.Cys18ProfsTer21
NM_174908.3:c.52_53del	NP_777568.1:p.Cys18ProfsTer21
NM_178335.2:c.52_53del	NP_848018.1:p.Cys18ProfsTer21
XM_011512460.1:c.52_53del	XP_011510762.1:p.Cys18ProfsTer21
NM_178335.3:c.52_53del MANE Select	NP_848018.1:p.Cys18ProfsTer21
NM_174908.4:c.52_53del	NP_777568.1:p.Cys18ProfsTer21