Canonical Allele Identifier: CA942298701

Gene: PTS

Linked Data

• gnomAD v3: 11-112228593-G-GTTTTTTTTATTTTTTTTTTTTTTTTT
• gnomAD v4: 11-112228593-G-GTTTTTTTTATTTTTTTTTTTTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112228594_112228595insTTTTTTTATTTTTTTTTTTTTTTTTT , CM000673.2:g.112228594_112228595insTTTTTTTATTTTTTTTTTTTTTTTTT	GRCh38
NC_000011.9:g.112099317_112099318insTTTTTTTATTTTTTTTTTTTTTTTTT , CM000673.1:g.112099317_112099318insTTTTTTTATTTTTTTTTTTTTTTTTT	GRCh37
NC_000011.8:g.111604527_111604528insTTTTTTTATTTTTTTTTTTTTTTTTT	NCBI36
NG_008743.1:g.7230_7231insTTTTTTTATTTTTTTTTTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280362.8:c.84_85insTTTTTTTATTTTTTTTTTTTTTTTTT MANE Select	ENSP00000280362.3:p.Lys29PhefsTer12
ENST00000280362.7:c.84_85insTTTTTTTATTTTTTTTTTTTTTTTTT	ENSP00000280362.3:p.Lys29PhefsTer12
ENST00000524931.1:c.-121_-120insTTTTTTTATTTTTTTTTTTTTTTTTT	ENSP00000434688.1:n.-121_-120insTTTTTTTATTTTTTTTTTTTTTTTTT
ENST00000525645.1:n.159_160insTTTTTTTATTTTTTTTTTTTTTTTTT
ENST00000525803.1:c.84_85insTTTTTTTATTTTTTTTTTTTTTTTTT	ENSP00000431750.1:p.Lys29PhefsTer12
ENST00000528679.5:c.84_85insTTTTTTTATTTTTTTTTTTTTTTTTT	ENSP00000435895.1:p.Lys29PhefsTer12
ENST00000531673.5:c.84_85insTTTTTTTATTTTTTTTTTTTTTTTTT	ENSP00000433469.1:p.Lys29PhefsTer12
NM_000317.2:c.84_85insTTTTTTTATTTTTTTTTTTTTTTTTT	NP_000308.1:p.Lys29PhefsTer12
NM_000317.3:c.84_85insTTTTTTTATTTTTTTTTTTTTTTTTT MANE Select	NP_000308.1:p.Lys29PhefsTer12