Canonical Allele Identifier: CA2725137786

Gene: PTS

Linked Data

• dbSNP Id: rs2135410338

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112233234_112233235insACTGAAAATGTAGCTGTTTATATC , CM000673.2:g.112233234_112233235insACTGAAAATGTAGCTGTTTATATC	GRCh38
NC_000011.9:g.112103957_112103958insACTGAAAATGTAGCTGTTTATATC , CM000673.1:g.112103957_112103958insACTGAAAATGTAGCTGTTTATATC	GRCh37
NC_000011.8:g.111609167_111609168insACTGAAAATGTAGCTGTTTATATC	NCBI36
NG_008743.1:g.11870_11871insACTGAAAATGTAGCTGTTTATATC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280362.8:c.314+1_314+2insACTGAAAATGTAGCTGTTTATATC MANE Select	ENSP00000280362.3:n.314+1_314+2insACTGAAAATGTAGCTGTTTATATC
ENST00000280362.7:c.314+1_314+2insACTGAAAATGTAGCTGTTTATATC	ENSP00000280362.3:n.314+1_314+2insACTGAAAATGTAGCTGTTTATATC
ENST00000524931.1:c.110+1_110+2insACTGAAAATGTAGCTGTTTATATC	ENSP00000434688.1:n.110+1_110+2insACTGAAAATGTAGCTGTTTATATC
ENST00000525803.1:c.*48+1_*48+2insACTGAAAATGTAGCTGTTTATATC	ENSP00000431750.1:n.*48+1_*48+2insACTGAAAATGTAGCTGTTTATATC
ENST00000527428.5:n.488+1_488+2insACTGAAAATGTAGCTGTTTATATC
ENST00000527635.1:n.355+1_355+2insACTGAAAATGTAGCTGTTTATATC
ENST00000528679.5:c.*123+1_*123+2insACTGAAAATGTAGCTGTTTATATC	ENSP00000435895.1:n.*123+1_*123+2insACTGAAAATGTAGCTGTTTATATC
ENST00000531175.1:n.266_267insACTGAAAATGTAGCTGTTTATATC
ENST00000531673.5:c.*123+1_*123+2insACTGAAAATGTAGCTGTTTATATC	ENSP00000433469.1:n.*123+1_*123+2insACTGAAAATGTAGCTGTTTATATC
NM_000317.2:c.314+1_314+2insACTGAAAATGTAGCTGTTTATATC	NP_000308.1:n.314+1_314+2insACTGAAAATGTAGCTGTTTATATC
XM_011542943.1:c.275+1_275+2insACTGAAAATGTAGCTGTTTATATC	XP_011541245.1:n.275+1_275+2insACTGAAAATGTAGCTGTTTATATC
NM_000317.3:c.314+1_314+2insACTGAAAATGTAGCTGTTTATATC MANE Select	NP_000308.1:n.314+1_314+2insACTGAAAATGTAGCTGTTTATATC