Canonical Allele Identifier: CA2793651170
Gene: PTS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112233392_112233408del , CM000673.2:g.112233392_112233408del GRCh38
NC_000011.9:g.112104115_112104131del , CM000673.1:g.112104115_112104131del GRCh37
NC_000011.8:g.111609325_111609341del NCBI36
NG_008743.1:g.12028_12044del

Transcript Alleles

HGVS Amino-acid change
ENST00000280362.8:c.315-40_315-24del MANE Select ENSP00000280362.3:n.315-40_315-24del
ENST00000280362.7:c.315-40_315-24del ENSP00000280362.3:n.315-40_315-24del
ENST00000524931.1:c.111-40_111-24del ENSP00000434688.1:n.111-40_111-24del
ENST00000525803.1:c.*49-40_*49-24del ENSP00000431750.1:n.*49-40_*49-24del
ENST00000527428.5:n.488+159_488+175del
ENST00000527635.1:n.356-40_356-24del
ENST00000528679.5:c.*124-40_*124-24del ENSP00000435895.1:n.*124-40_*124-24del
ENST00000531673.5:c.*123+159_*123+175del ENSP00000433469.1:n.*123+159_*123+175del
NM_000317.2:c.315-40_315-24del NP_000308.1:n.315-40_315-24del
XM_011542943.1:c.276-40_276-24del XP_011541245.1:n.276-40_276-24del
NM_000317.3:c.315-40_315-24del MANE Select NP_000308.1:n.315-40_315-24del