Canonical Allele Identifier: CA942298751

Gene: PTS

Linked Data

• gnomAD v3: 11-112228603-A-ATTTTTTTATTTTTTT
• gnomAD v4: 11-112228603-A-ATTTTTTTATTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112228603_112228604insTTTTTTTATTTTTTT , CM000673.2:g.112228603_112228604insTTTTTTTATTTTTTT	GRCh38
NC_000011.9:g.112099326_112099327insTTTTTTTATTTTTTT , CM000673.1:g.112099326_112099327insTTTTTTTATTTTTTT	GRCh37
NC_000011.8:g.111604536_111604537insTTTTTTTATTTTTTT	NCBI36
NG_008743.1:g.7239_7240insTTTTTTTATTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280362.8:c.93_94insTTTTTTTATTTTTTT MANE Select	ENSP00000280362.3:p.Leu31_Ser32insPhePheTyrPhePhe
ENST00000280362.7:c.93_94insTTTTTTTATTTTTTT	ENSP00000280362.3:p.Leu31_Ser32insPhePheTyrPhePhe
ENST00000524931.1:c.-112_-111insTTTTTTTATTTTTTT	ENSP00000434688.1:n.-112_-111insTTTTTTTATTTTTTT
ENST00000525645.1:n.168_169insTTTTTTTATTTTTTT
ENST00000525803.1:c.93_94insTTTTTTTATTTTTTT	ENSP00000431750.1:p.Leu31_Ser32insPhePheTyrPhePhe
ENST00000528679.5:c.93_94insTTTTTTTATTTTTTT	ENSP00000435895.1:p.Leu31_Ser32insPhePheTyrPhePhe
ENST00000531673.5:c.93_94insTTTTTTTATTTTTTT	ENSP00000433469.1:p.Leu31_Ser32insPhePheTyrPhePhe
NM_000317.2:c.93_94insTTTTTTTATTTTTTT	NP_000308.1:p.Leu31_Ser32insPhePheTyrPhePhe
NM_000317.3:c.93_94insTTTTTTTATTTTTTT MANE Select	NP_000308.1:p.Leu31_Ser32insPhePheTyrPhePhe