Canonical Allele Identifier: CA942298715
Gene: PTS HGNC NCBI

Linked Data

gnomAD v3: 11-112228594-TAAA-T
gnomAD v4: 11-112228594-TAAA-T
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112228595_112228597del , CM000673.2:g.112228595_112228597del GRCh38
NC_000011.9:g.112099318_112099320del , CM000673.1:g.112099318_112099320del GRCh37
NC_000011.8:g.111604528_111604530del NCBI36
NG_008743.1:g.7231_7233del

Transcript Alleles

HGVS Amino-acid Change
ENST00000280362.8:c.85_87del MANE Select ENSP00000280362.3:p.Lys29del
ENST00000280362.7:c.85_87del ENSP00000280362.3:p.Lys29del
ENST00000524931.1:c.-120_-118del ENSP00000434688.1:n.-120_-118del
ENST00000525645.1:n.160_162del
ENST00000525803.1:c.85_87del ENSP00000431750.1:p.Lys29del
ENST00000528679.5:c.85_87del ENSP00000435895.1:p.Lys29del
ENST00000531673.5:c.85_87del ENSP00000433469.1:p.Lys29del
NM_000317.2:c.85_87del NP_000308.1:p.Lys29del
NM_000317.3:c.85_87del MANE Select NP_000308.1:p.Lys29del
Search 100 bp 5'
Search 100 bp 3'