Canonical Allele Identifier: CA2743276739
Gene: PPT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40091492_40091493insGAG , CM000663.2:g.40091492_40091493insGAG GRCh38
NC_000001.10:g.40557164_40557165insGAG , CM000663.1:g.40557164_40557165insGAG GRCh37
NC_000001.9:g.40329751_40329752insGAG NCBI36
NG_009192.1:g.10978_10979insCTC , LRG_690:g.10978_10979insCTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000372779.9:c.*199-94_*199-93insCTC ENSP00000361865.5:n.*199-94_*199-93insCTC
ENST00000433473.8:c.360-94_360-93insCTC ENSP00000394863.4:n.360-94_360-93insCTC
ENST00000439754.6:c.363-94_363-93insCTC ENSP00000403207.2:n.363-94_363-93insCTC
ENST00000449045.7:c.125-1981_125-1980insCTC ENSP00000392293.2:n.125-1981_125-1980insCTC
ENST00000526547.2:c.643-94_643-93insCTC
ENST00000527311.7:c.235-94_235-93insCTC ENSP00000436695.3:n.235-94_235-93insCTC
ENST00000530704.6:c.363-94_363-93insCTC ENSP00000431655.1:n.363-94_363-93insCTC
ENST00000641083.1:c.341-94_341-93insCTC
ENST00000641236.1:n.600-94_600-93insCTC
ENST00000641319.1:c.363-94_363-93insCTC ENSP00000493128.1:n.363-94_363-93insCTC
ENST00000641471.1:c.450-94_450-93insCTC ENSP00000493146.1:n.450-94_450-93insCTC
ENST00000641548.1:c.*215-94_*215-93insCTC ENSP00000492984.1:n.*215-94_*215-93insCTC
ENST00000641691.1:c.*215-94_*215-93insCTC ENSP00000492910.1:n.*215-94_*215-93insCTC
ENST00000641924.1:c.124+5622_124+5623insCTC ENSP00000493063.1:n.124+5622_124+5623insCTC
ENST00000642050.2:c.363-94_363-93insCTC MANE Select ENSP00000493153.1:n.363-94_363-93insCTC
ENST00000372779.8:c.450-94_450-93insCTC ENSP00000361865.4:n.450-94_450-93insCTC
ENST00000433473.7:c.363-94_363-93insCTC ENSP00000394863.3:n.363-94_363-93insCTC
ENST00000439754.5:c.48-94_48-93insCTC ENSP00000403207.1:n.48-94_48-93insCTC
ENST00000449045.6:c.125-1981_125-1980insCTC ENSP00000392293.2:n.125-1981_125-1980insCTC
ENST00000526547.1:c.213-94_213-93insCTC ENSP00000436481.1:n.213-94_213-93insCTC
ENST00000527311.6:c.138-94_138-93insCTC ENSP00000436695.2:n.138-94_138-93insCTC
ENST00000529905.5:c.363-94_363-93insCTC ENSP00000432053.1:n.363-94_363-93insCTC
ENST00000530704.5:c.363-94_363-93insCTC ENSP00000431655.1:n.363-94_363-93insCTC
NM_000310.3:c.363-94_363-93insCTC , LRG_690t1:c.363-94_363-93insCTC NP_000301.1:n.363-94_363-93insCTC
NM_001142604.1:c.125-1981_125-1980insCTC NP_001136076.1:n.125-1981_125-1980insCTC
XM_005271008.1:c.363-94_363-93insCTC XP_005271065.1:n.363-94_363-93insCTC
NM_001363695.1:c.363-94_363-93insCTC NP_001350624.1:n.363-94_363-93insCTC
NM_000310.4:c.363-94_363-93insCTC MANE Select NP_000301.1:n.363-94_363-93insCTC
NM_001142604.2:c.125-1981_125-1980insCTC NP_001136076.1:n.125-1981_125-1980insCTC
NM_001363695.2:c.363-94_363-93insCTC NP_001350624.1:n.363-94_363-93insCTC