Canonical Allele Identifier: CA2574980379
Gene: PTS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112233386del , CM000673.2:g.112233386del GRCh38
NC_000011.9:g.112104109del , CM000673.1:g.112104109del GRCh37
NC_000011.8:g.111609319del NCBI36
NG_008743.1:g.12022del

Transcript Alleles

HGVS Amino-acid Change
ENST00000280362.8:c.315-46del MANE Select ENSP00000280362.3:n.315-46del
ENST00000280362.7:c.315-46del ENSP00000280362.3:n.315-46del
ENST00000524931.1:c.111-46del ENSP00000434688.1:n.111-46del
ENST00000525803.1:c.*49-46del ENSP00000431750.1:n.*49-46del
ENST00000527428.5:n.488+153del
ENST00000527635.1:n.356-46del
ENST00000528679.5:c.*124-46del ENSP00000435895.1:n.*124-46del
ENST00000531175.1:n.418del
ENST00000531673.5:c.*123+153del ENSP00000433469.1:n.*123+153del
NM_000317.2:c.315-46del NP_000308.1:n.315-46del
XM_011542943.1:c.276-46del XP_011541245.1:n.276-46del
NM_000317.3:c.315-46del MANE Select NP_000308.1:n.315-46del