Canonical Allele Identifier: CA2743276903
Gene: PPT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40091555_40091556insAGAG , CM000663.2:g.40091555_40091556insAGAG GRCh38
NC_000001.10:g.40557227_40557228insAGAG , CM000663.1:g.40557227_40557228insAGAG GRCh37
NC_000001.9:g.40329814_40329815insAGAG NCBI36
NG_009192.1:g.10915_10916insCTCT , LRG_690:g.10915_10916insCTCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000372779.9:c.*199-157_*199-156insCTCT ENSP00000361865.5:n.*199-157_*199-156insCTCT
ENST00000433473.8:c.360-157_360-156insCTCT ENSP00000394863.4:n.360-157_360-156insCTCT
ENST00000439754.6:c.363-157_363-156insCTCT ENSP00000403207.2:n.363-157_363-156insCTCT
ENST00000449045.7:c.125-2044_125-2043insCTCT ENSP00000392293.2:n.125-2044_125-2043insCTCT
ENST00000526547.2:c.643-157_643-156insCTCT
ENST00000527311.7:c.235-157_235-156insCTCT ENSP00000436695.3:n.235-157_235-156insCTCT
ENST00000530704.6:c.363-157_363-156insCTCT ENSP00000431655.1:n.363-157_363-156insCTCT
ENST00000641083.1:c.341-157_341-156insCTCT
ENST00000641236.1:n.600-157_600-156insCTCT
ENST00000641319.1:c.363-157_363-156insCTCT ENSP00000493128.1:n.363-157_363-156insCTCT
ENST00000641471.1:c.450-157_450-156insCTCT ENSP00000493146.1:n.450-157_450-156insCTCT
ENST00000641548.1:c.*215-157_*215-156insCTCT ENSP00000492984.1:n.*215-157_*215-156insCTCT
ENST00000641691.1:c.*215-157_*215-156insCTCT ENSP00000492910.1:n.*215-157_*215-156insCTCT
ENST00000641924.1:c.124+5559_124+5560insCTCT ENSP00000493063.1:n.124+5559_124+5560insCTCT
ENST00000642050.2:c.363-157_363-156insCTCT MANE Select ENSP00000493153.1:n.363-157_363-156insCTCT
ENST00000372779.8:c.450-157_450-156insCTCT ENSP00000361865.4:n.450-157_450-156insCTCT
ENST00000433473.7:c.363-157_363-156insCTCT ENSP00000394863.3:n.363-157_363-156insCTCT
ENST00000439754.5:c.48-157_48-156insCTCT ENSP00000403207.1:n.48-157_48-156insCTCT
ENST00000449045.6:c.125-2044_125-2043insCTCT ENSP00000392293.2:n.125-2044_125-2043insCTCT
ENST00000526547.1:c.213-157_213-156insCTCT ENSP00000436481.1:n.213-157_213-156insCTCT
ENST00000527311.6:c.138-157_138-156insCTCT ENSP00000436695.2:n.138-157_138-156insCTCT
ENST00000529905.5:c.363-157_363-156insCTCT ENSP00000432053.1:n.363-157_363-156insCTCT
ENST00000530704.5:c.363-157_363-156insCTCT ENSP00000431655.1:n.363-157_363-156insCTCT
NM_000310.3:c.363-157_363-156insCTCT , LRG_690t1:c.363-157_363-156insCTCT NP_000301.1:n.363-157_363-156insCTCT
NM_001142604.1:c.125-2044_125-2043insCTCT NP_001136076.1:n.125-2044_125-2043insCTCT
XM_005271008.1:c.363-157_363-156insCTCT XP_005271065.1:n.363-157_363-156insCTCT
NM_001363695.1:c.363-157_363-156insCTCT NP_001350624.1:n.363-157_363-156insCTCT
NM_000310.4:c.363-157_363-156insCTCT MANE Select NP_000301.1:n.363-157_363-156insCTCT
NM_001142604.2:c.125-2044_125-2043insCTCT NP_001136076.1:n.125-2044_125-2043insCTCT
NM_001363695.2:c.363-157_363-156insCTCT NP_001350624.1:n.363-157_363-156insCTCT