Canonical Allele Identifier: CA942298739
Gene: PTS HGNC NCBI

Linked Data

gnomAD v3: 11-112228602-TAAGTGATGAAG-T
gnomAD v4: 11-112228602-TAAGTGATGAAG-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112228605_112228615del , CM000673.2:g.112228605_112228615del GRCh38
NC_000011.9:g.112099328_112099338del , CM000673.1:g.112099328_112099338del GRCh37
NC_000011.8:g.111604538_111604548del NCBI36
NG_008743.1:g.7241_7251del

Transcript Alleles

HGVS Amino-acid Change
ENST00000280362.8:c.95_105del MANE Select ENSP00000280362.3:p.Ser32LysfsTer19
ENST00000280362.7:c.95_105del ENSP00000280362.3:p.Ser32LysfsTer19
ENST00000524931.1:c.-110_-100del ENSP00000434688.1:n.-110_-100del
ENST00000525645.1:n.170_180del
ENST00000525803.1:c.95_105del ENSP00000431750.1:p.Ser32LysfsTer19
ENST00000528679.5:c.95_105del ENSP00000435895.1:p.Ser32LysfsTer19
ENST00000531673.5:c.95_105del ENSP00000433469.1:p.Ser32LysfsTer19
NM_000317.2:c.95_105del NP_000308.1:p.Ser32LysfsTer19
NM_000317.3:c.95_105del MANE Select NP_000308.1:p.Ser32LysfsTer19
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