Canonical Allele Identifier: CA2615999819

Gene: PTS

Linked Data

• gnomAD v4: 11-112228571-CTTTTTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112228582_112228587del , CM000673.2:g.112228582_112228587del	GRCh38
NC_000011.9:g.112099305_112099310del , CM000673.1:g.112099305_112099310del	GRCh37
NC_000011.8:g.111604515_111604520del	NCBI36
NG_008743.1:g.7218_7223del

Transcript Alleles

HGVS	Amino-acid change
ENST00000280362.8:c.84-12_84-7del MANE Select	ENSP00000280362.3:n.84-12_84-7del
ENST00000280362.7:c.84-12_84-7del	ENSP00000280362.3:n.84-12_84-7del
ENST00000524931.1:c.-121-12_-121-7del	ENSP00000434688.1:n.-121-12_-121-7del
ENST00000525645.1:n.159-12_159-7del
ENST00000525803.1:c.84-12_84-7del	ENSP00000431750.1:n.84-12_84-7del
ENST00000528679.5:c.84-12_84-7del	ENSP00000435895.1:n.84-12_84-7del
ENST00000531673.5:c.84-12_84-7del	ENSP00000433469.1:n.84-12_84-7del
NM_000317.2:c.84-12_84-7del	NP_000308.1:n.84-12_84-7del
NM_000317.3:c.84-12_84-7del MANE Select	NP_000308.1:n.84-12_84-7del