Canonical Allele Identifier: CA2669071609

Gene: CCDC50

Linked Data

• gnomAD v4: 3-191357253-G-GCTTCACCATC

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.191357255_191357264dup , CM000665.2:g.191357255_191357264dup	GRCh38
NC_000003.11:g.191075044_191075053dup , CM000665.1:g.191075044_191075053dup	GRCh37
NC_000003.10:g.192557738_192557747dup	NCBI36
NG_008994.1:g.33171_33180dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392455.9:c.112+105_112+114dup MANE Select	ENSP00000376249.4:n.112+105_112+114dup
ENST00000392456.4:c.112+105_112+114dup	ENSP00000376250.4:n.112+105_112+114dup
ENST00000392455.7:c.112+105_112+114dup	ENSP00000376249.3:n.112+105_112+114dup
ENST00000392456.3:c.112+105_112+114dup	ENSP00000376250.3:n.112+105_112+114dup
NM_174908.3:c.112+105_112+114dup	NP_777568.1:n.112+105_112+114dup
NM_178335.2:c.112+105_112+114dup	NP_848018.1:n.112+105_112+114dup
XM_011512460.1:c.112+105_112+114dup	XP_011510762.1:n.112+105_112+114dup
NM_178335.3:c.112+105_112+114dup MANE Select	NP_848018.1:n.112+105_112+114dup
NM_174908.4:c.112+105_112+114dup	NP_777568.1:n.112+105_112+114dup