Canonical Allele Identifier: CA1000864326

Gene: PPT1

Linked Data

• dbSNP Id: rs1649563064
• gnomAD v3: 1-40091506-CAG-C
• gnomAD v4: 1-40091506-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40091509_40091510del , CM000663.2:g.40091509_40091510del	GRCh38
NC_000001.10:g.40557181_40557182del , CM000663.1:g.40557181_40557182del	GRCh37
NC_000001.9:g.40329768_40329769del	NCBI36
NG_009192.1:g.10963_10964del , LRG_690:g.10963_10964del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*199-109_*199-108del	ENSP00000361865.5:n.*199-109_*199-108del
ENST00000433473.8:c.360-109_360-108del	ENSP00000394863.4:n.360-109_360-108del
ENST00000439754.6:c.363-109_363-108del	ENSP00000403207.2:n.363-109_363-108del
ENST00000449045.7:c.125-1996_125-1995del	ENSP00000392293.2:n.125-1996_125-1995del
ENST00000526547.2:c.643-109_643-108del
ENST00000527311.7:c.235-109_235-108del	ENSP00000436695.3:n.235-109_235-108del
ENST00000530704.6:c.363-109_363-108del	ENSP00000431655.1:n.363-109_363-108del
ENST00000641083.1:c.341-109_341-108del
ENST00000641236.1:n.600-109_600-108del
ENST00000641319.1:c.363-109_363-108del	ENSP00000493128.1:n.363-109_363-108del
ENST00000641471.1:c.450-109_450-108del	ENSP00000493146.1:n.450-109_450-108del
ENST00000641548.1:c.*215-109_*215-108del	ENSP00000492984.1:n.*215-109_*215-108del
ENST00000641691.1:c.*215-109_*215-108del	ENSP00000492910.1:n.*215-109_*215-108del
ENST00000641924.1:c.124+5607_124+5608del	ENSP00000493063.1:n.124+5607_124+5608del
ENST00000642050.2:c.363-109_363-108del MANE Select	ENSP00000493153.1:n.363-109_363-108del
ENST00000372779.8:c.450-109_450-108del	ENSP00000361865.4:n.450-109_450-108del
ENST00000433473.7:c.363-109_363-108del	ENSP00000394863.3:n.363-109_363-108del
ENST00000439754.5:c.48-109_48-108del	ENSP00000403207.1:n.48-109_48-108del
ENST00000449045.6:c.125-1996_125-1995del	ENSP00000392293.2:n.125-1996_125-1995del
ENST00000526547.1:c.213-109_213-108del	ENSP00000436481.1:n.213-109_213-108del
ENST00000527311.6:c.138-109_138-108del	ENSP00000436695.2:n.138-109_138-108del
ENST00000529905.5:c.363-109_363-108del	ENSP00000432053.1:n.363-109_363-108del
ENST00000530704.5:c.363-109_363-108del	ENSP00000431655.1:n.363-109_363-108del
NM_000310.3:c.363-109_363-108del , LRG_690t1:c.363-109_363-108del	NP_000301.1:n.363-109_363-108del
NM_001142604.1:c.125-1996_125-1995del	NP_001136076.1:n.125-1996_125-1995del
XM_005271008.1:c.363-109_363-108del	XP_005271065.1:n.363-109_363-108del
NM_001363695.1:c.363-109_363-108del	NP_001350624.1:n.363-109_363-108del
NM_000310.4:c.363-109_363-108del MANE Select	NP_000301.1:n.363-109_363-108del
NM_001142604.2:c.125-1996_125-1995del	NP_001136076.1:n.125-1996_125-1995del
NM_001363695.2:c.363-109_363-108del	NP_001350624.1:n.363-109_363-108del