Canonical Allele Identifier: CA2743276858
Gene: PPT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40091538_40091539insAGA , CM000663.2:g.40091538_40091539insAGA GRCh38
NC_000001.10:g.40557210_40557211insAGA , CM000663.1:g.40557210_40557211insAGA GRCh37
NC_000001.9:g.40329797_40329798insAGA NCBI36
NG_009192.1:g.10932_10933insTCT , LRG_690:g.10932_10933insTCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000372779.9:c.*199-140_*199-139insTCT ENSP00000361865.5:n.*199-140_*199-139insTCT
ENST00000433473.8:c.360-140_360-139insTCT ENSP00000394863.4:n.360-140_360-139insTCT
ENST00000439754.6:c.363-140_363-139insTCT ENSP00000403207.2:n.363-140_363-139insTCT
ENST00000449045.7:c.125-2027_125-2026insTCT ENSP00000392293.2:n.125-2027_125-2026insTCT
ENST00000526547.2:c.643-140_643-139insTCT
ENST00000527311.7:c.235-140_235-139insTCT ENSP00000436695.3:n.235-140_235-139insTCT
ENST00000530704.6:c.363-140_363-139insTCT ENSP00000431655.1:n.363-140_363-139insTCT
ENST00000641083.1:c.341-140_341-139insTCT
ENST00000641236.1:n.600-140_600-139insTCT
ENST00000641319.1:c.363-140_363-139insTCT ENSP00000493128.1:n.363-140_363-139insTCT
ENST00000641471.1:c.450-140_450-139insTCT ENSP00000493146.1:n.450-140_450-139insTCT
ENST00000641548.1:c.*215-140_*215-139insTCT ENSP00000492984.1:n.*215-140_*215-139insTCT
ENST00000641691.1:c.*215-140_*215-139insTCT ENSP00000492910.1:n.*215-140_*215-139insTCT
ENST00000641924.1:c.124+5576_124+5577insTCT ENSP00000493063.1:n.124+5576_124+5577insTCT
ENST00000642050.2:c.363-140_363-139insTCT MANE Select ENSP00000493153.1:n.363-140_363-139insTCT
ENST00000372779.8:c.450-140_450-139insTCT ENSP00000361865.4:n.450-140_450-139insTCT
ENST00000433473.7:c.363-140_363-139insTCT ENSP00000394863.3:n.363-140_363-139insTCT
ENST00000439754.5:c.48-140_48-139insTCT ENSP00000403207.1:n.48-140_48-139insTCT
ENST00000449045.6:c.125-2027_125-2026insTCT ENSP00000392293.2:n.125-2027_125-2026insTCT
ENST00000526547.1:c.213-140_213-139insTCT ENSP00000436481.1:n.213-140_213-139insTCT
ENST00000527311.6:c.138-140_138-139insTCT ENSP00000436695.2:n.138-140_138-139insTCT
ENST00000529905.5:c.363-140_363-139insTCT ENSP00000432053.1:n.363-140_363-139insTCT
ENST00000530704.5:c.363-140_363-139insTCT ENSP00000431655.1:n.363-140_363-139insTCT
NM_000310.3:c.363-140_363-139insTCT , LRG_690t1:c.363-140_363-139insTCT NP_000301.1:n.363-140_363-139insTCT
NM_001142604.1:c.125-2027_125-2026insTCT NP_001136076.1:n.125-2027_125-2026insTCT
XM_005271008.1:c.363-140_363-139insTCT XP_005271065.1:n.363-140_363-139insTCT
NM_001363695.1:c.363-140_363-139insTCT NP_001350624.1:n.363-140_363-139insTCT
NM_000310.4:c.363-140_363-139insTCT MANE Select NP_000301.1:n.363-140_363-139insTCT
NM_001142604.2:c.125-2027_125-2026insTCT NP_001136076.1:n.125-2027_125-2026insTCT
NM_001363695.2:c.363-140_363-139insTCT NP_001350624.1:n.363-140_363-139insTCT