Canonical Allele Identifier: CA1429222144

Gene: CCDC50

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.191375140_191375142delinsCTG , CM000665.2:g.191375140_191375142delinsCTG	GRCh38
NC_000003.11:g.191092929_191092931delinsCTG , CM000665.1:g.191092929_191092931delinsCTG	GRCh37
NC_000003.10:g.192575623_192575625delinsCTG	NCBI36
NG_008994.1:g.51056_51058delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392455.9:c.527_529delinsCTG MANE Select	ENSP00000376249.4:p.Thr176=
ENST00000392456.4:c.449-5019_449-5017delinsCTG	ENSP00000376250.4:n.449-5019_449-5017delinsCTG
ENST00000392455.7:c.449-5019_449-5017delinsCTG	ENSP00000376249.3:n.449-5019_449-5017delinsCTG
ENST00000392456.3:c.527_529delinsCTG	ENSP00000376250.3:p.Thr176=
NM_174908.3:c.449-5019_449-5017delinsCTG	NP_777568.1:n.449-5019_449-5017delinsCTG
NM_178335.2:c.527_529delinsCTG	NP_848018.1:p.Thr176=
XM_011512460.1:c.527_529delinsCTG	XP_011510762.1:p.Thr176=
NM_178335.3:c.527_529delinsCTG MANE Select	NP_848018.1:p.Thr176=
NM_174908.4:c.449-5019_449-5017delinsCTG	NP_777568.1:n.449-5019_449-5017delinsCTG