Canonical Allele Identifier: CA228597033

Gene: PTS

Linked Data

• dbSNP Id: rs137920358
• gnomAD v2: 11-112099217-CTT-C
• gnomAD v3: 11-112228494-CTT-C
• gnomAD v4: 11-112228494-CTT-C
• MyVariant Identifiers: chr11:g.112099218_112099219del (hg19) ; chr11:g.112228495_112228496del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112228497_112228498del , CM000673.2:g.112228497_112228498del	GRCh38
NC_000011.9:g.112099220_112099221del , CM000673.1:g.112099220_112099221del	GRCh37
NC_000011.8:g.111604430_111604431del	NCBI36
NG_008743.1:g.7133_7134del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280362.8:c.84-97_84-96del MANE Select	ENSP00000280362.3:n.84-97_84-96del
ENST00000280362.7:c.84-97_84-96del	ENSP00000280362.3:n.84-97_84-96del
ENST00000524931.1:c.-121-97_-121-96del	ENSP00000434688.1:n.-121-97_-121-96del
ENST00000525645.1:n.159-97_159-96del
ENST00000525803.1:c.84-97_84-96del	ENSP00000431750.1:n.84-97_84-96del
ENST00000528679.5:c.84-97_84-96del	ENSP00000435895.1:n.84-97_84-96del
ENST00000531673.5:c.84-97_84-96del	ENSP00000433469.1:n.84-97_84-96del
NM_000317.2:c.84-97_84-96del	NP_000308.1:n.84-97_84-96del
NM_000317.3:c.84-97_84-96del MANE Select	NP_000308.1:n.84-97_84-96del