Canonical Allele Identifier: CA212742
Gene: PTS HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112233478_112233491del , CM000673.2:g.112233478_112233491del GRCh38
NC_000011.9:g.112104201_112104214del , CM000673.1:g.112104201_112104214del GRCh37
NC_000011.8:g.111609411_111609424del NCBI36
NG_008743.1:g.12114_12127del

Transcript Alleles

HGVS Amino-acid Change
ENST00000280362.8:c.361_374del MANE Select ENSP00000280362.3:p.Val121SerfsTer4
ENST00000280362.7:c.361_374del ENSP00000280362.3:p.Val121SerfsTer4
ENST00000524931.1:c.157_170del ENSP00000434688.1:p.Val53SerfsTer4
ENST00000525803.1:c.*95_*108del ENSP00000431750.1:n.*95_*108del
ENST00000527428.5:n.488+245_488+258del
ENST00000527635.1:n.402_415del
ENST00000528679.5:c.*170_*183del ENSP00000435895.1:n.*170_*183del
ENST00000531673.5:c.*123+245_*123+258del ENSP00000433469.1:n.*123+245_*123+258del
NM_000317.2:c.361_374del NP_000308.1:p.Val121SerfsTer4
XM_011542943.1:c.322_335del XP_011541245.1:p.Val108SerfsTer4
NM_000317.3:c.361_374del MANE Select NP_000308.1:p.Val121SerfsTer4
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