Canonical Allele Identifier: CA2669071547

Gene: CCDC50

Linked Data

• gnomAD v4: 3-191357097-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.191357101del , CM000665.2:g.191357101del	GRCh38
NC_000003.11:g.191074890del , CM000665.1:g.191074890del	GRCh37
NC_000003.10:g.192557584del	NCBI36
NG_008994.1:g.33017del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392455.9:c.63del MANE Select	ENSP00000376249.4:p.Phe21LeufsTer?
ENST00000392456.4:c.63del	ENSP00000376250.4:p.Phe21LeufsTer?
ENST00000392455.7:c.63del	ENSP00000376249.3:p.Phe21LeufsTer?
ENST00000392456.3:c.63del	ENSP00000376250.3:p.Phe21LeufsTer?
NM_174908.3:c.63del	NP_777568.1:p.Phe21LeufsTer?
NM_178335.2:c.63del	NP_848018.1:p.Phe21LeufsTer?
XM_011512460.1:c.63del	XP_011510762.1:p.Phe21LeufsTer?
NM_178335.3:c.63del MANE Select	NP_848018.1:p.Phe21LeufsTer?
NM_174908.4:c.63del	NP_777568.1:p.Phe21LeufsTer?