Canonical Allele Identifier: CA2743276853

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40091536_40091537insGT , CM000663.2:g.40091536_40091537insGT	GRCh38
NC_000001.10:g.40557208_40557209insGT , CM000663.1:g.40557208_40557209insGT	GRCh37
NC_000001.9:g.40329795_40329796insGT	NCBI36
NG_009192.1:g.10934_10935insAC , LRG_690:g.10934_10935insAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*199-138_*199-137insAC	ENSP00000361865.5:n.*199-138_*199-137insAC
ENST00000433473.8:c.360-138_360-137insAC	ENSP00000394863.4:n.360-138_360-137insAC
ENST00000439754.6:c.363-138_363-137insAC	ENSP00000403207.2:n.363-138_363-137insAC
ENST00000449045.7:c.125-2025_125-2024insAC	ENSP00000392293.2:n.125-2025_125-2024insAC
ENST00000526547.2:c.643-138_643-137insAC
ENST00000527311.7:c.235-138_235-137insAC	ENSP00000436695.3:n.235-138_235-137insAC
ENST00000530704.6:c.363-138_363-137insAC	ENSP00000431655.1:n.363-138_363-137insAC
ENST00000641083.1:c.341-138_341-137insAC
ENST00000641236.1:n.600-138_600-137insAC
ENST00000641319.1:c.363-138_363-137insAC	ENSP00000493128.1:n.363-138_363-137insAC
ENST00000641471.1:c.450-138_450-137insAC	ENSP00000493146.1:n.450-138_450-137insAC
ENST00000641548.1:c.*215-138_*215-137insAC	ENSP00000492984.1:n.*215-138_*215-137insAC
ENST00000641691.1:c.*215-138_*215-137insAC	ENSP00000492910.1:n.*215-138_*215-137insAC
ENST00000641924.1:c.124+5578_124+5579insAC	ENSP00000493063.1:n.124+5578_124+5579insAC
ENST00000642050.2:c.363-138_363-137insAC MANE Select	ENSP00000493153.1:n.363-138_363-137insAC
ENST00000372779.8:c.450-138_450-137insAC	ENSP00000361865.4:n.450-138_450-137insAC
ENST00000433473.7:c.363-138_363-137insAC	ENSP00000394863.3:n.363-138_363-137insAC
ENST00000439754.5:c.48-138_48-137insAC	ENSP00000403207.1:n.48-138_48-137insAC
ENST00000449045.6:c.125-2025_125-2024insAC	ENSP00000392293.2:n.125-2025_125-2024insAC
ENST00000526547.1:c.213-138_213-137insAC	ENSP00000436481.1:n.213-138_213-137insAC
ENST00000527311.6:c.138-138_138-137insAC	ENSP00000436695.2:n.138-138_138-137insAC
ENST00000529905.5:c.363-138_363-137insAC	ENSP00000432053.1:n.363-138_363-137insAC
ENST00000530704.5:c.363-138_363-137insAC	ENSP00000431655.1:n.363-138_363-137insAC
NM_000310.3:c.363-138_363-137insAC , LRG_690t1:c.363-138_363-137insAC	NP_000301.1:n.363-138_363-137insAC
NM_001142604.1:c.125-2025_125-2024insAC	NP_001136076.1:n.125-2025_125-2024insAC
XM_005271008.1:c.363-138_363-137insAC	XP_005271065.1:n.363-138_363-137insAC
NM_001363695.1:c.363-138_363-137insAC	NP_001350624.1:n.363-138_363-137insAC
NM_000310.4:c.363-138_363-137insAC MANE Select	NP_000301.1:n.363-138_363-137insAC
NM_001142604.2:c.125-2025_125-2024insAC	NP_001136076.1:n.125-2025_125-2024insAC
NM_001363695.2:c.363-138_363-137insAC	NP_001350624.1:n.363-138_363-137insAC