Canonical Allele Identifier: CA2616001591

Gene: PTS

Linked Data

• gnomAD v4: 11-112233298-T-TCA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112233298_112233299insCA , CM000673.2:g.112233298_112233299insCA	GRCh38
NC_000011.9:g.112104021_112104022insCA , CM000673.1:g.112104021_112104022insCA	GRCh37
NC_000011.8:g.111609231_111609232insCA	NCBI36
NG_008743.1:g.11934_11935insCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280362.8:c.314+65_314+66insCA MANE Select	ENSP00000280362.3:n.314+65_314+66insCA
ENST00000280362.7:c.314+65_314+66insCA	ENSP00000280362.3:n.314+65_314+66insCA
ENST00000524931.1:c.110+65_110+66insCA	ENSP00000434688.1:n.110+65_110+66insCA
ENST00000525803.1:c.*48+65_*48+66insCA	ENSP00000431750.1:n.*48+65_*48+66insCA
ENST00000527428.5:n.488+65_488+66insCA
ENST00000527635.1:n.355+65_355+66insCA
ENST00000528679.5:c.*123+65_*123+66insCA	ENSP00000435895.1:n.*123+65_*123+66insCA
ENST00000531175.1:n.330_331insCA
ENST00000531673.5:c.*123+65_*123+66insCA	ENSP00000433469.1:n.*123+65_*123+66insCA
NM_000317.2:c.314+65_314+66insCA	NP_000308.1:n.314+65_314+66insCA
XM_011542943.1:c.275+65_275+66insCA	XP_011541245.1:n.275+65_275+66insCA
NM_000317.3:c.314+65_314+66insCA MANE Select	NP_000308.1:n.314+65_314+66insCA