Canonical Allele Identifier: CA6278465
Gene: PTS HGNC NCBI

Linked Data

ClinVar Variation Id: 550850
ClinVar RCV Id: RCV000665717 RCV001008121
dbSNP Id: rs747260038
ExAC: 11:112099348 CTGTT / C
gnomAD v2: 11-112099348-CTGTT-C
gnomAD v3: 11-112228625-CTGTT-C
gnomAD v4: 11-112228625-CTGTT-C
MyVariant Identifiers: chr11:g.112099349_112099352del (hg19) chr11:g.112228628_112228631del (hg38) chr11:g.112228626_112228629del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112228628_112228631del , CM000673.2:g.112228628_112228631del GRCh38
NC_000011.9:g.112099351_112099354del , CM000673.1:g.112099351_112099354del GRCh37
NC_000011.8:g.111604561_111604564del NCBI36
NG_008743.1:g.7264_7267del

Transcript Alleles

HGVS Amino-acid Change
ENST00000280362.8:c.118_121del MANE Select ENSP00000280362.3:p.Phe40GlyfsTer17
ENST00000280362.7:c.118_121del ENSP00000280362.3:p.Phe40GlyfsTer17
ENST00000524931.1:c.-87_-84del ENSP00000434688.1:n.-87_-84del
ENST00000525645.1:n.193_196del
ENST00000525803.1:c.118_121del ENSP00000431750.1:p.Phe40GlyfsTer?
ENST00000528679.5:c.118_121del ENSP00000435895.1:p.Phe40GlyfsTer?
ENST00000531673.5:c.118_121del ENSP00000433469.1:p.Phe40GlyfsTer?
NM_000317.2:c.118_121del NP_000308.1:p.Phe40GlyfsTer17
NM_000317.3:c.118_121del MANE Select NP_000308.1:p.Phe40GlyfsTer17
Search 100 bp 5'
Search 100 bp 3'