Canonical Allele Identifier: CA912970759
Gene: PTS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112230209_112230212del , CM000673.2:g.112230209_112230212del GRCh38
NC_000011.9:g.112100932_112100935del , CM000673.1:g.112100932_112100935del GRCh37
NC_000011.8:g.111606142_111606145del NCBI36
NG_008743.1:g.8845_8848del

Transcript Alleles

HGVS Amino-acid Change
ENST00000280362.8:c.165_168del MANE Select ENSP00000280362.3:p.Val56Ter
ENST00000280362.7:c.165_168del ENSP00000280362.3:p.Val56Ter
ENST00000524931.1:c.-40_-37del ENSP00000434688.1:n.-40_-37del
ENST00000525803.1:c.163+1536_163+1539del ENSP00000431750.1:n.163+1536_163+1539del
ENST00000528679.5:c.164-417_164-414del ENSP00000435895.1:n.164-417_164-414del
ENST00000531175.1:n.116_119del
ENST00000531673.5:c.164-417_164-414del ENSP00000433469.1:n.164-417_164-414del
NM_000317.2:c.165_168del NP_000308.1:p.Val56Ter
XM_011542943.1:c.126_129del XP_011541245.1:p.Val43Ter
NM_000317.3:c.165_168del MANE Select NP_000308.1:p.Val56Ter