Canonical Allele Identifier: CA2000618356

Gene: PTS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112230209_112230212delinsTGTG , CM000673.2:g.112230209_112230212delinsTGTG	GRCh38
NC_000011.9:g.112100932_112100935delinsTGTG , CM000673.1:g.112100932_112100935delinsTGTG	GRCh37
NC_000011.8:g.111606142_111606145delinsTGTG	NCBI36
NG_008743.1:g.8845_8848delinsTGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280362.8:c.165_168delinsTGTG MANE Select	ENSP00000280362.3:p.Val55=
ENST00000280362.7:c.165_168delinsTGTG	ENSP00000280362.3:p.Val55=
ENST00000524931.1:c.-40_-37delinsTGTG	ENSP00000434688.1:n.-40_-37delinsTGTG
ENST00000525803.1:c.163+1536_163+1539delinsTGTG	ENSP00000431750.1:n.163+1536_163+1539delinsTGTG
ENST00000528679.5:c.164-417_164-414delinsTGTG	ENSP00000435895.1:n.164-417_164-414delinsTGTG
ENST00000531175.1:n.116_119delinsTGTG
ENST00000531673.5:c.164-417_164-414delinsTGTG	ENSP00000433469.1:n.164-417_164-414delinsTGTG
NM_000317.2:c.165_168delinsTGTG	NP_000308.1:p.Val55=
XM_011542943.1:c.126_129delinsTGTG	XP_011541245.1:p.Val42=
NM_000317.3:c.165_168delinsTGTG MANE Select	NP_000308.1:p.Val55=