Canonical Allele Identifier: CA2000619895

Gene: PTS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112233373_112233375delinsCAT , CM000673.2:g.112233373_112233375delinsCAT	GRCh38
NC_000011.9:g.112104096_112104098delinsCAT , CM000673.1:g.112104096_112104098delinsCAT	GRCh37
NC_000011.8:g.111609306_111609308delinsCAT	NCBI36
NG_008743.1:g.12009_12011delinsCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280362.8:c.315-59_315-57delinsCAT MANE Select	ENSP00000280362.3:n.315-59_315-57delinsCAT
ENST00000280362.7:c.315-59_315-57delinsCAT	ENSP00000280362.3:n.315-59_315-57delinsCAT
ENST00000524931.1:c.111-59_111-57delinsCAT	ENSP00000434688.1:n.111-59_111-57delinsCAT
ENST00000525803.1:c.*49-59_*49-57delinsCAT	ENSP00000431750.1:n.*49-59_*49-57delinsCAT
ENST00000527428.5:n.488+140_488+142delinsCAT
ENST00000527635.1:n.356-59_356-57delinsCAT
ENST00000528679.5:c.*124-59_*124-57delinsCAT	ENSP00000435895.1:n.*124-59_*124-57delinsCAT
ENST00000531175.1:n.405_407delinsCAT
ENST00000531673.5:c.*123+140_*123+142delinsCAT	ENSP00000433469.1:n.*123+140_*123+142delinsCAT
NM_000317.2:c.315-59_315-57delinsCAT	NP_000308.1:n.315-59_315-57delinsCAT
XM_011542943.1:c.276-59_276-57delinsCAT	XP_011541245.1:n.276-59_276-57delinsCAT
NM_000317.3:c.315-59_315-57delinsCAT MANE Select	NP_000308.1:n.315-59_315-57delinsCAT