Canonical Allele Identifier: CA2725136341

Gene: PTS

Linked Data

• dbSNP Id: rs2135408983

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112230234del , CM000673.2:g.112230234del	GRCh38
NC_000011.9:g.112100957del , CM000673.1:g.112100957del	GRCh37
NC_000011.8:g.111606167del	NCBI36
NG_008743.1:g.8870del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280362.8:c.186+4del MANE Select	ENSP00000280362.3:n.186+4del
ENST00000280362.7:c.186+4del	ENSP00000280362.3:n.186+4del
ENST00000524931.1:c.-19+4del	ENSP00000434688.1:n.-19+4del
ENST00000525803.1:c.163+1561del	ENSP00000431750.1:n.163+1561del
ENST00000528679.5:c.164-392del	ENSP00000435895.1:n.164-392del
ENST00000531175.1:n.137+4del
ENST00000531673.5:c.164-392del	ENSP00000433469.1:n.164-392del
NM_000317.2:c.186+4del	NP_000308.1:n.186+4del
XM_011542943.1:c.147+4del	XP_011541245.1:n.147+4del
NM_000317.3:c.186+4del MANE Select	NP_000308.1:n.186+4del