Canonical Allele Identifier: CA658820634

Gene: CCDC50

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.191375390_191375391insTAAT , CM000665.2:g.191375390_191375391insTAAT	GRCh38
NC_000003.11:g.191093179_191093180insTAAT , CM000665.1:g.191093179_191093180insTAAT	GRCh37
NC_000003.10:g.192575873_192575874insTAAT	NCBI36
NG_008994.1:g.51306_51307insTAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392455.9:c.777_778insTAAT MANE Select	ENSP00000376249.4:p.His260Ter
ENST00000392456.4:c.449-4769_449-4768insTAAT	ENSP00000376250.4:n.449-4769_449-4768insTAAT
ENST00000392455.7:c.449-4769_449-4768insTAAT	ENSP00000376249.3:n.449-4769_449-4768insTAAT
ENST00000392456.3:c.777_778insTAAT	ENSP00000376250.3:p.His260Ter
NM_174908.3:c.449-4769_449-4768insTAAT	NP_777568.1:n.449-4769_449-4768insTAAT
NM_178335.2:c.777_778insTAAT	NP_848018.1:p.His260Ter
XM_011512460.1:c.777_778insTAAT	XP_011510762.1:p.His260Ter
NM_178335.3:c.777_778insTAAT MANE Select	NP_848018.1:p.His260Ter
NM_174908.4:c.449-4769_449-4768insTAAT	NP_777568.1:n.449-4769_449-4768insTAAT