Canonical Allele Identifier: CA2793647394
Gene: PTS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112228588_112228589insTTT , CM000673.2:g.112228588_112228589insTTT GRCh38
NC_000011.9:g.112099311_112099312insTTT , CM000673.1:g.112099311_112099312insTTT GRCh37
NC_000011.8:g.111604521_111604522insTTT NCBI36
NG_008743.1:g.7224_7225insTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000280362.8:c.84-6_84-5insTTT MANE Select ENSP00000280362.3:n.84-6_84-5insTTT
ENST00000280362.7:c.84-6_84-5insTTT ENSP00000280362.3:n.84-6_84-5insTTT
ENST00000524931.1:c.-121-6_-121-5insTTT ENSP00000434688.1:n.-121-6_-121-5insTTT
ENST00000525645.1:n.159-6_159-5insTTT
ENST00000525803.1:c.84-6_84-5insTTT ENSP00000431750.1:n.84-6_84-5insTTT
ENST00000528679.5:c.84-6_84-5insTTT ENSP00000435895.1:n.84-6_84-5insTTT
ENST00000531673.5:c.84-6_84-5insTTT ENSP00000433469.1:n.84-6_84-5insTTT
NM_000317.2:c.84-6_84-5insTTT NP_000308.1:n.84-6_84-5insTTT
NM_000317.3:c.84-6_84-5insTTT MANE Select NP_000308.1:n.84-6_84-5insTTT