Canonical Allele Identifier: CA228597003

Gene: PTS

Linked Data

• dbSNP Id: rs1025794353
• gnomAD v3: 11-112228456-ACT-A
• gnomAD v4: 11-112228456-ACT-A
• MyVariant Identifiers: chr11:g.112099180_112099181del (hg19) ; chr11:g.112228457_112228458del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112228460_112228461del , CM000673.2:g.112228460_112228461del	GRCh38
NC_000011.9:g.112099183_112099184del , CM000673.1:g.112099183_112099184del	GRCh37
NC_000011.8:g.111604393_111604394del	NCBI36
NG_008743.1:g.7096_7097del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280362.8:c.84-134_84-133del MANE Select	ENSP00000280362.3:n.84-134_84-133del
ENST00000280362.7:c.84-134_84-133del	ENSP00000280362.3:n.84-134_84-133del
ENST00000524931.1:c.-122+102_-122+103del	ENSP00000434688.1:n.-122+102_-122+103del
ENST00000525645.1:n.159-134_159-133del
ENST00000525803.1:c.84-134_84-133del	ENSP00000431750.1:n.84-134_84-133del
ENST00000528679.5:c.84-134_84-133del	ENSP00000435895.1:n.84-134_84-133del
ENST00000531673.5:c.84-134_84-133del	ENSP00000433469.1:n.84-134_84-133del
NM_000317.2:c.84-134_84-133del	NP_000308.1:n.84-134_84-133del
NM_000317.3:c.84-134_84-133del MANE Select	NP_000308.1:n.84-134_84-133del