Canonical Allele Identifier: CA2616001625

Gene: PTS

Linked Data

• gnomAD v4: 11-112233369-T-TAA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112233371_112233372dup , CM000673.2:g.112233371_112233372dup	GRCh38
NC_000011.9:g.112104094_112104095dup , CM000673.1:g.112104094_112104095dup	GRCh37
NC_000011.8:g.111609304_111609305dup	NCBI36
NG_008743.1:g.12007_12008dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280362.8:c.315-61_315-60dup MANE Select	ENSP00000280362.3:n.315-61_315-60dup
ENST00000280362.7:c.315-61_315-60dup	ENSP00000280362.3:n.315-61_315-60dup
ENST00000524931.1:c.111-61_111-60dup	ENSP00000434688.1:n.111-61_111-60dup
ENST00000525803.1:c.*49-61_*49-60dup	ENSP00000431750.1:n.*49-61_*49-60dup
ENST00000527428.5:n.488+138_488+139dup
ENST00000527635.1:n.356-61_356-60dup
ENST00000528679.5:c.*124-61_*124-60dup	ENSP00000435895.1:n.*124-61_*124-60dup
ENST00000531175.1:n.403_404dup
ENST00000531673.5:c.*123+138_*123+139dup	ENSP00000433469.1:n.*123+138_*123+139dup
NM_000317.2:c.315-61_315-60dup	NP_000308.1:n.315-61_315-60dup
XM_011542943.1:c.276-61_276-60dup	XP_011541245.1:n.276-61_276-60dup
NM_000317.3:c.315-61_315-60dup MANE Select	NP_000308.1:n.315-61_315-60dup