Canonical Allele Identifier: CA2743276711
Gene: PPT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40091444_40091445insA , CM000663.2:g.40091444_40091445insA GRCh38
NC_000001.10:g.40557116_40557117insA , CM000663.1:g.40557116_40557117insA GRCh37
NC_000001.9:g.40329703_40329704insA NCBI36
NG_009192.1:g.11026_11027insT , LRG_690:g.11026_11027insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000372779.9:c.*199-46_*199-45insT ENSP00000361865.5:n.*199-46_*199-45insT
ENST00000433473.8:c.360-46_360-45insT ENSP00000394863.4:n.360-46_360-45insT
ENST00000439754.6:c.363-46_363-45insT ENSP00000403207.2:n.363-46_363-45insT
ENST00000449045.7:c.125-1933_125-1932insT ENSP00000392293.2:n.125-1933_125-1932insT
ENST00000526547.2:c.643-46_643-45insT
ENST00000527311.7:c.235-46_235-45insT ENSP00000436695.3:n.235-46_235-45insT
ENST00000530704.6:c.363-46_363-45insT ENSP00000431655.1:n.363-46_363-45insT
ENST00000641083.1:c.341-46_341-45insT
ENST00000641236.1:n.600-46_600-45insT
ENST00000641319.1:c.363-46_363-45insT ENSP00000493128.1:n.363-46_363-45insT
ENST00000641471.1:c.450-46_450-45insT ENSP00000493146.1:n.450-46_450-45insT
ENST00000641548.1:c.*215-46_*215-45insT ENSP00000492984.1:n.*215-46_*215-45insT
ENST00000641691.1:c.*215-46_*215-45insT ENSP00000492910.1:n.*215-46_*215-45insT
ENST00000641924.1:c.124+5670_124+5671insT ENSP00000493063.1:n.124+5670_124+5671insT
ENST00000642050.2:c.363-46_363-45insT MANE Select ENSP00000493153.1:n.363-46_363-45insT
ENST00000372779.8:c.450-46_450-45insT ENSP00000361865.4:n.450-46_450-45insT
ENST00000433473.7:c.363-46_363-45insT ENSP00000394863.3:n.363-46_363-45insT
ENST00000439754.5:c.48-46_48-45insT ENSP00000403207.1:n.48-46_48-45insT
ENST00000449045.6:c.125-1933_125-1932insT ENSP00000392293.2:n.125-1933_125-1932insT
ENST00000526547.1:c.213-46_213-45insT ENSP00000436481.1:n.213-46_213-45insT
ENST00000527311.6:c.138-46_138-45insT ENSP00000436695.2:n.138-46_138-45insT
ENST00000529905.5:c.363-46_363-45insT ENSP00000432053.1:n.363-46_363-45insT
ENST00000530704.5:c.363-46_363-45insT ENSP00000431655.1:n.363-46_363-45insT
NM_000310.3:c.363-46_363-45insT , LRG_690t1:c.363-46_363-45insT NP_000301.1:n.363-46_363-45insT
NM_001142604.1:c.125-1933_125-1932insT NP_001136076.1:n.125-1933_125-1932insT
XM_005271008.1:c.363-46_363-45insT XP_005271065.1:n.363-46_363-45insT
NM_001363695.1:c.363-46_363-45insT NP_001350624.1:n.363-46_363-45insT
NM_000310.4:c.363-46_363-45insT MANE Select NP_000301.1:n.363-46_363-45insT
NM_001142604.2:c.125-1933_125-1932insT NP_001136076.1:n.125-1933_125-1932insT
NM_001363695.2:c.363-46_363-45insT NP_001350624.1:n.363-46_363-45insT