Canonical Allele Identifier: CA942298683

Gene: PTS

Linked Data

• gnomAD v3: 11-112228589-G-GTTTTTTTTTTTTTT
• gnomAD v4: 11-112228589-G-GTTTTTTTTTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112228590_112228591insTTTTTTTTTTTTTT , CM000673.2:g.112228590_112228591insTTTTTTTTTTTTTT	GRCh38
NC_000011.9:g.112099313_112099314insTTTTTTTTTTTTTT , CM000673.1:g.112099313_112099314insTTTTTTTTTTTTTT	GRCh37
NC_000011.8:g.111604523_111604524insTTTTTTTTTTTTTT	NCBI36
NG_008743.1:g.7226_7227insTTTTTTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280362.8:c.84-4_84-3insTTTTTTTTTTTTTT MANE Select	ENSP00000280362.3:n.84-4_84-3insTTTTTTTTTTTTTT
ENST00000280362.7:c.84-4_84-3insTTTTTTTTTTTTTT	ENSP00000280362.3:n.84-4_84-3insTTTTTTTTTTTTTT
ENST00000524931.1:c.-121-4_-121-3insTTTTTTTTTTTTTT	ENSP00000434688.1:n.-121-4_-121-3insTTTTTTTTTTTTTT
ENST00000525645.1:n.159-4_159-3insTTTTTTTTTTTTTT
ENST00000525803.1:c.84-4_84-3insTTTTTTTTTTTTTT	ENSP00000431750.1:n.84-4_84-3insTTTTTTTTTTTTTT
ENST00000528679.5:c.84-4_84-3insTTTTTTTTTTTTTT	ENSP00000435895.1:n.84-4_84-3insTTTTTTTTTTTTTT
ENST00000531673.5:c.84-4_84-3insTTTTTTTTTTTTTT	ENSP00000433469.1:n.84-4_84-3insTTTTTTTTTTTTTT
NM_000317.2:c.84-4_84-3insTTTTTTTTTTTTTT	NP_000308.1:n.84-4_84-3insTTTTTTTTTTTTTT
NM_000317.3:c.84-4_84-3insTTTTTTTTTTTTTT MANE Select	NP_000308.1:n.84-4_84-3insTTTTTTTTTTTTTT