Canonical Allele Identifier: CA2000618378

Gene: PTS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112230246_112230247delinsAT , CM000673.2:g.112230246_112230247delinsAT	GRCh38
NC_000011.9:g.112100969_112100970delinsAT , CM000673.1:g.112100969_112100970delinsAT	GRCh37
NC_000011.8:g.111606179_111606180delinsAT	NCBI36
NG_008743.1:g.8882_8883delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280362.8:c.186+16_186+17delinsAT MANE Select	ENSP00000280362.3:n.186+16_186+17delinsAT
ENST00000280362.7:c.186+16_186+17delinsAT	ENSP00000280362.3:n.186+16_186+17delinsAT
ENST00000524931.1:c.-19+16_-19+17delinsAT	ENSP00000434688.1:n.-19+16_-19+17delinsAT
ENST00000525803.1:c.163+1573_163+1574delinsAT	ENSP00000431750.1:n.163+1573_163+1574delinsAT
ENST00000528679.5:c.164-380_164-379delinsAT	ENSP00000435895.1:n.164-380_164-379delinsAT
ENST00000531175.1:n.137+16_137+17delinsAT
ENST00000531673.5:c.164-380_164-379delinsAT	ENSP00000433469.1:n.164-380_164-379delinsAT
NM_000317.2:c.186+16_186+17delinsAT	NP_000308.1:n.186+16_186+17delinsAT
XM_011542943.1:c.147+16_147+17delinsAT	XP_011541245.1:n.147+16_147+17delinsAT
NM_000317.3:c.186+16_186+17delinsAT MANE Select	NP_000308.1:n.186+16_186+17delinsAT