Canonical Allele Identifier: CA2615999839
Gene: PTS HGNC NCBI

Linked Data

gnomAD v4: 11-112228571-C-CTTTTTTT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112228581_112228587dup , CM000673.2:g.112228581_112228587dup GRCh38
NC_000011.9:g.112099304_112099310dup , CM000673.1:g.112099304_112099310dup GRCh37
NC_000011.8:g.111604514_111604520dup NCBI36
NG_008743.1:g.7217_7223dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000280362.8:c.84-13_84-7dup MANE Select ENSP00000280362.3:n.84-13_84-7dup
ENST00000280362.7:c.84-13_84-7dup ENSP00000280362.3:n.84-13_84-7dup
ENST00000524931.1:c.-121-13_-121-7dup ENSP00000434688.1:n.-121-13_-121-7dup
ENST00000525645.1:n.159-13_159-7dup
ENST00000525803.1:c.84-13_84-7dup ENSP00000431750.1:n.84-13_84-7dup
ENST00000528679.5:c.84-13_84-7dup ENSP00000435895.1:n.84-13_84-7dup
ENST00000531673.5:c.84-13_84-7dup ENSP00000433469.1:n.84-13_84-7dup
NM_000317.2:c.84-13_84-7dup NP_000308.1:n.84-13_84-7dup
NM_000317.3:c.84-13_84-7dup MANE Select NP_000308.1:n.84-13_84-7dup
Search 100 bp 5'
Search 100 bp 3'