Canonical Allele Identifier: CA2669071643

Gene: CCDC50

Linked Data

• gnomAD v4: 3-191357291-A-ATCATTTGCCT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.191357291_191357292insTCATTTGCCT , CM000665.2:g.191357291_191357292insTCATTTGCCT	GRCh38
NC_000003.11:g.191075080_191075081insTCATTTGCCT , CM000665.1:g.191075080_191075081insTCATTTGCCT	GRCh37
NC_000003.10:g.192557774_192557775insTCATTTGCCT	NCBI36
NG_008994.1:g.33207_33208insTCATTTGCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392455.9:c.112+141_112+142insTCATTTGCCT MANE Select	ENSP00000376249.4:n.112+141_112+142insTCATTTGCCT
ENST00000392456.4:c.112+141_112+142insTCATTTGCCT	ENSP00000376250.4:n.112+141_112+142insTCATTTGCCT
ENST00000392455.7:c.112+141_112+142insTCATTTGCCT	ENSP00000376249.3:n.112+141_112+142insTCATTTGCCT
ENST00000392456.3:c.112+141_112+142insTCATTTGCCT	ENSP00000376250.3:n.112+141_112+142insTCATTTGCCT
NM_174908.3:c.112+141_112+142insTCATTTGCCT	NP_777568.1:n.112+141_112+142insTCATTTGCCT
NM_178335.2:c.112+141_112+142insTCATTTGCCT	NP_848018.1:n.112+141_112+142insTCATTTGCCT
XM_011512460.1:c.112+141_112+142insTCATTTGCCT	XP_011510762.1:n.112+141_112+142insTCATTTGCCT
NM_178335.3:c.112+141_112+142insTCATTTGCCT MANE Select	NP_848018.1:n.112+141_112+142insTCATTTGCCT
NM_174908.4:c.112+141_112+142insTCATTTGCCT	NP_777568.1:n.112+141_112+142insTCATTTGCCT