Canonical Allele Identifier: CA89772278
Gene: CCDC50 HGNC NCBI

Linked Data

ClinVar Variation Id: 1235084
ClinVar RCV Id: RCV001621848
dbSNP Id: rs35377745
gnomAD v2: 3-191074783-AT-A
gnomAD v3: 3-191356994-AT-A
gnomAD v4: 3-191356994-AT-A
MyVariant Identifiers: chr3:g.191074784del (hg19) chr3:g.191356995del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.191357002del , CM000665.2:g.191357002del GRCh38
NC_000003.11:g.191074791del , CM000665.1:g.191074791del GRCh37
NC_000003.10:g.192557485del NCBI36
NG_008994.1:g.32918del

Transcript Alleles

HGVS Amino-acid Change
ENST00000392455.9:c.50-86del MANE Select ENSP00000376249.4:n.50-86del
ENST00000392456.4:c.50-86del ENSP00000376250.4:n.50-86del
ENST00000392455.7:c.50-86del ENSP00000376249.3:n.50-86del
ENST00000392456.3:c.50-86del ENSP00000376250.3:n.50-86del
NM_174908.3:c.50-86del NP_777568.1:n.50-86del
NM_178335.2:c.50-86del NP_848018.1:n.50-86del
XM_011512460.1:c.50-86del XP_011510762.1:n.50-86del
NM_178335.3:c.50-86del MANE Select NP_848018.1:n.50-86del
NM_174908.4:c.50-86del NP_777568.1:n.50-86del
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