Canonical Allele Identifier: CA2669071618

Gene: CCDC50

Linked Data

• gnomAD v4: 3-191357262-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.191357264del , CM000665.2:g.191357264del	GRCh38
NC_000003.11:g.191075053del , CM000665.1:g.191075053del	GRCh37
NC_000003.10:g.192557747del	NCBI36
NG_008994.1:g.33180del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392455.9:c.112+114del MANE Select	ENSP00000376249.4:n.112+114del
ENST00000392456.4:c.112+114del	ENSP00000376250.4:n.112+114del
ENST00000392455.7:c.112+114del	ENSP00000376249.3:n.112+114del
ENST00000392456.3:c.112+114del	ENSP00000376250.3:n.112+114del
NM_174908.3:c.112+114del	NP_777568.1:n.112+114del
NM_178335.2:c.112+114del	NP_848018.1:n.112+114del
XM_011512460.1:c.112+114del	XP_011510762.1:n.112+114del
NM_178335.3:c.112+114del MANE Select	NP_848018.1:n.112+114del
NM_174908.4:c.112+114del	NP_777568.1:n.112+114del