Canonical Allele Identifier: CA2645092706
Gene: PPT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40092154del , CM000663.2:g.40092154del GRCh38
NC_000001.10:g.40557826del , CM000663.1:g.40557826del GRCh37
NC_000001.9:g.40330413del NCBI36
NG_009192.1:g.10318del , LRG_690:g.10318del

Transcript Alleles

HGVS Amino-acid Change
ENST00000372779.9:c.*90del ENSP00000361865.5:n.*90del
ENST00000433473.8:c.251del ENSP00000394863.4:p.Phe84SerfsTer2
ENST00000439754.6:c.254del ENSP00000403207.2:p.Phe85SerfsTer2
ENST00000449045.7:c.125-2641del ENSP00000392293.2:n.125-2641del
ENST00000526547.2:c.534del
ENST00000527311.7:c.234+245del ENSP00000436695.3:n.234+245del
ENST00000530704.6:c.254del ENSP00000431655.1:p.Phe85SerfsTer2
ENST00000641083.1:c.232del
ENST00000641236.1:n.491del
ENST00000641319.1:c.254del ENSP00000493128.1:p.Phe85SerfsTer2
ENST00000641471.1:c.341del ENSP00000493146.1:p.Phe114SerfsTer2
ENST00000641548.1:c.*106del ENSP00000492984.1:n.*106del
ENST00000641691.1:c.*106del ENSP00000492910.1:n.*106del
ENST00000641924.1:c.124+4962del ENSP00000493063.1:n.124+4962del
ENST00000642050.2:c.254del MANE Select ENSP00000493153.1:p.Phe85SerfsTer2
ENST00000372779.8:c.341del ENSP00000361865.4:p.Phe114SerfsTer2
ENST00000433473.7:c.254del ENSP00000394863.3:p.Phe85SerfsTer2
ENST00000449045.6:c.125-2641del ENSP00000392293.2:n.125-2641del
ENST00000526547.1:c.104del ENSP00000436481.1:p.Phe35SerfsTer2
ENST00000527311.6:c.125-96del ENSP00000436695.2:n.125-96del
ENST00000529905.5:c.254del ENSP00000432053.1:p.Phe85SerfsTer2
ENST00000530704.5:c.254del ENSP00000431655.1:p.Phe85SerfsTer2
NM_000310.3:c.254del , LRG_690t1:c.254del NP_000301.1:p.Phe85SerfsTer2
NM_001142604.1:c.125-2641del NP_001136076.1:n.125-2641del
XM_005271008.1:c.254del XP_005271065.1:p.Phe85SerfsTer2
NM_001363695.1:c.254del NP_001350624.1:p.Phe85SerfsTer2
NM_000310.4:c.254del MANE Select NP_000301.1:p.Phe85SerfsTer2
NM_001142604.2:c.125-2641del NP_001136076.1:n.125-2641del
NM_001363695.2:c.254del NP_001350624.1:p.Phe85SerfsTer2