Canonical Allele Identifier: CA2573146808

Gene: PTS

Linked Data

• ClinVar Variation Id: 1378622
• ClinVar RCV Id: RCV001881243
• dbSNP Id: rs2135408968

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112230218_112230219del , CM000673.2:g.112230218_112230219del	GRCh38
NC_000011.9:g.112100941_112100942del , CM000673.1:g.112100941_112100942del	GRCh37
NC_000011.8:g.111606151_111606152del	NCBI36
NG_008743.1:g.8854_8855del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280362.8:c.174_175del MANE Select	ENSP00000280362.3:p.Val59ThrfsTer5
ENST00000280362.7:c.174_175del	ENSP00000280362.3:p.Val59ThrfsTer5
ENST00000524931.1:c.-31_-30del	ENSP00000434688.1:n.-31_-30del
ENST00000525803.1:c.163+1545_163+1546del	ENSP00000431750.1:n.163+1545_163+1546del
ENST00000528679.5:c.164-408_164-407del	ENSP00000435895.1:n.164-408_164-407del
ENST00000531175.1:n.125_126del
ENST00000531673.5:c.164-408_164-407del	ENSP00000433469.1:n.164-408_164-407del
NM_000317.2:c.174_175del	NP_000308.1:p.Val59ThrfsTer5
XM_011542943.1:c.135_136del	XP_011541245.1:p.Val46ThrfsTer5
NM_000317.3:c.174_175del MANE Select	NP_000308.1:p.Val59ThrfsTer5