Canonical Allele Identifier: CA2669071569
Gene: CCDC50 HGNC NCBI

Linked Data

gnomAD v4: 3-191357196-GT-G
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.191357197del , CM000665.2:g.191357197del GRCh38
NC_000003.11:g.191074986del , CM000665.1:g.191074986del GRCh37
NC_000003.10:g.192557680del NCBI36
NG_008994.1:g.33113del

Transcript Alleles

HGVS Amino-acid Change
ENST00000392455.9:c.112+47del MANE Select ENSP00000376249.4:n.112+47del
ENST00000392456.4:c.112+47del ENSP00000376250.4:n.112+47del
ENST00000392455.7:c.112+47del ENSP00000376249.3:n.112+47del
ENST00000392456.3:c.112+47del ENSP00000376250.3:n.112+47del
NM_174908.3:c.112+47del NP_777568.1:n.112+47del
NM_178335.2:c.112+47del NP_848018.1:n.112+47del
XM_011512460.1:c.112+47del XP_011510762.1:n.112+47del
NM_178335.3:c.112+47del MANE Select NP_848018.1:n.112+47del
NM_174908.4:c.112+47del NP_777568.1:n.112+47del
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