Canonical Allele Identifier: CA1429222166

Gene: CCDC50

Linked Data

• dbSNP Id: rs1713053110

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.191375193_191375196del , CM000665.2:g.191375193_191375196del	GRCh38
NC_000003.11:g.191092982_191092985del , CM000665.1:g.191092982_191092985del	GRCh37
NC_000003.10:g.192575676_192575679del	NCBI36
NG_008994.1:g.51109_51112del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392455.9:c.580_583del MANE Select	ENSP00000376249.4:p.Pro194AsnfsTer?
ENST00000392456.4:c.449-4966_449-4963del	ENSP00000376250.4:n.449-4966_449-4963del
ENST00000392455.7:c.449-4966_449-4963del	ENSP00000376249.3:n.449-4966_449-4963del
ENST00000392456.3:c.580_583del	ENSP00000376250.3:p.Pro194AsnfsTer?
NM_174908.3:c.449-4966_449-4963del	NP_777568.1:n.449-4966_449-4963del
NM_178335.2:c.580_583del	NP_848018.1:p.Pro194AsnfsTer?
XM_011512460.1:c.580_583del	XP_011510762.1:p.Pro194AsnfsTer?
NM_178335.3:c.580_583del MANE Select	NP_848018.1:p.Pro194AsnfsTer?
NM_174908.4:c.449-4966_449-4963del	NP_777568.1:n.449-4966_449-4963del