Canonical Allele Identifier: CA942298758
Gene: PTS HGNC NCBI

Linked Data

gnomAD v3: 11-112228605-G-GTTTTTTTTT
gnomAD v4: 11-112228605-G-GTTTTTTTTT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112228606_112228607insTTTTTTTTT , CM000673.2:g.112228606_112228607insTTTTTTTTT GRCh38
NC_000011.9:g.112099329_112099330insTTTTTTTTT , CM000673.1:g.112099329_112099330insTTTTTTTTT GRCh37
NC_000011.8:g.111604539_111604540insTTTTTTTTT NCBI36
NG_008743.1:g.7242_7243insTTTTTTTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000280362.8:c.96_97insTTTTTTTTT MANE Select ENSP00000280362.3:p.Ser32_Asp33insPhePhePhe
ENST00000280362.7:c.96_97insTTTTTTTTT ENSP00000280362.3:p.Ser32_Asp33insPhePhePhe
ENST00000524931.1:c.-109_-108insTTTTTTTTT ENSP00000434688.1:n.-109_-108insTTTTTTTTT
ENST00000525645.1:n.171_172insTTTTTTTTT
ENST00000525803.1:c.96_97insTTTTTTTTT ENSP00000431750.1:p.Ser32_Asp33insPhePhePhe
ENST00000528679.5:c.96_97insTTTTTTTTT ENSP00000435895.1:p.Ser32_Asp33insPhePhePhe
ENST00000531673.5:c.96_97insTTTTTTTTT ENSP00000433469.1:p.Ser32_Asp33insPhePhePhe
NM_000317.2:c.96_97insTTTTTTTTT NP_000308.1:p.Ser32_Asp33insPhePhePhe
NM_000317.3:c.96_97insTTTTTTTTT MANE Select NP_000308.1:p.Ser32_Asp33insPhePhePhe
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