Canonical Allele Identifier: CA89778651
Gene: CCDC50 HGNC NCBI

Linked Data

dbSNP Id: rs867519535
gnomAD v2: 3-191092944-AAG-A
gnomAD v3: 3-191375155-AAG-A
gnomAD v4: 3-191375155-AAG-A
MyVariant Identifiers: chr3:g.191092945_191092946del (hg19) chr3:g.191375157_191375158del (hg38) chr3:g.191375156_191375157del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.191375159_191375160del , CM000665.2:g.191375159_191375160del GRCh38
NC_000003.11:g.191092948_191092949del , CM000665.1:g.191092948_191092949del GRCh37
NC_000003.10:g.192575642_192575643del NCBI36
NG_008994.1:g.51075_51076del

Transcript Alleles

HGVS Amino-acid Change
ENST00000392455.9:c.546_547del MANE Select ENSP00000376249.4:p.Lys183ThrfsTer25
ENST00000392456.4:c.449-5000_449-4999del ENSP00000376250.4:n.449-5000_449-4999del
ENST00000392455.7:c.449-5000_449-4999del ENSP00000376249.3:n.449-5000_449-4999del
ENST00000392456.3:c.546_547del ENSP00000376250.3:p.Lys183ThrfsTer25
NM_174908.3:c.449-5000_449-4999del NP_777568.1:n.449-5000_449-4999del
NM_178335.2:c.546_547del NP_848018.1:p.Lys183ThrfsTer25
XM_011512460.1:c.546_547del XP_011510762.1:p.Lys183ThrfsTer25
NM_178335.3:c.546_547del MANE Select NP_848018.1:p.Lys183ThrfsTer25
NM_174908.4:c.449-5000_449-4999del NP_777568.1:n.449-5000_449-4999del
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