Canonical Allele Identifier: CA2000617570
Gene: PTS HGNC NCBI

Linked Data

dbSNP Id: rs1859892652
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112228520_112228523del , CM000673.2:g.112228520_112228523del GRCh38
NC_000011.9:g.112099243_112099246del , CM000673.1:g.112099243_112099246del GRCh37
NC_000011.8:g.111604453_111604456del NCBI36
NG_008743.1:g.7156_7159del

Transcript Alleles

HGVS Amino-acid Change
ENST00000280362.8:c.84-74_84-71del MANE Select ENSP00000280362.3:n.84-74_84-71del
ENST00000280362.7:c.84-74_84-71del ENSP00000280362.3:n.84-74_84-71del
ENST00000524931.1:c.-121-74_-121-71del ENSP00000434688.1:n.-121-74_-121-71del
ENST00000525645.1:n.159-74_159-71del
ENST00000525803.1:c.84-74_84-71del ENSP00000431750.1:n.84-74_84-71del
ENST00000528679.5:c.84-74_84-71del ENSP00000435895.1:n.84-74_84-71del
ENST00000531673.5:c.84-74_84-71del ENSP00000433469.1:n.84-74_84-71del
NM_000317.2:c.84-74_84-71del NP_000308.1:n.84-74_84-71del
NM_000317.3:c.84-74_84-71del MANE Select NP_000308.1:n.84-74_84-71del
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