Canonical Allele Identifier: CA2645092446

Gene: PPT1

Linked Data

• gnomAD v4: 1-40091527-A-AAAC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40091527_40091528insAAC , CM000663.2:g.40091527_40091528insAAC	GRCh38
NC_000001.10:g.40557199_40557200insAAC , CM000663.1:g.40557199_40557200insAAC	GRCh37
NC_000001.9:g.40329786_40329787insAAC	NCBI36
NG_009192.1:g.10943_10944insGTT , LRG_690:g.10943_10944insGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*199-129_*199-128insGTT	ENSP00000361865.5:n.*199-129_*199-128insGTT
ENST00000433473.8:c.360-129_360-128insGTT	ENSP00000394863.4:n.360-129_360-128insGTT
ENST00000439754.6:c.363-129_363-128insGTT	ENSP00000403207.2:n.363-129_363-128insGTT
ENST00000449045.7:c.125-2016_125-2015insGTT	ENSP00000392293.2:n.125-2016_125-2015insGTT
ENST00000526547.2:c.643-129_643-128insGTT
ENST00000527311.7:c.235-129_235-128insGTT	ENSP00000436695.3:n.235-129_235-128insGTT
ENST00000530704.6:c.363-129_363-128insGTT	ENSP00000431655.1:n.363-129_363-128insGTT
ENST00000641083.1:c.341-129_341-128insGTT
ENST00000641236.1:n.600-129_600-128insGTT
ENST00000641319.1:c.363-129_363-128insGTT	ENSP00000493128.1:n.363-129_363-128insGTT
ENST00000641471.1:c.450-129_450-128insGTT	ENSP00000493146.1:n.450-129_450-128insGTT
ENST00000641548.1:c.*215-129_*215-128insGTT	ENSP00000492984.1:n.*215-129_*215-128insGTT
ENST00000641691.1:c.*215-129_*215-128insGTT	ENSP00000492910.1:n.*215-129_*215-128insGTT
ENST00000641924.1:c.124+5587_124+5588insGTT	ENSP00000493063.1:n.124+5587_124+5588insGTT
ENST00000642050.2:c.363-129_363-128insGTT MANE Select	ENSP00000493153.1:n.363-129_363-128insGTT
ENST00000372779.8:c.450-129_450-128insGTT	ENSP00000361865.4:n.450-129_450-128insGTT
ENST00000433473.7:c.363-129_363-128insGTT	ENSP00000394863.3:n.363-129_363-128insGTT
ENST00000439754.5:c.48-129_48-128insGTT	ENSP00000403207.1:n.48-129_48-128insGTT
ENST00000449045.6:c.125-2016_125-2015insGTT	ENSP00000392293.2:n.125-2016_125-2015insGTT
ENST00000526547.1:c.213-129_213-128insGTT	ENSP00000436481.1:n.213-129_213-128insGTT
ENST00000527311.6:c.138-129_138-128insGTT	ENSP00000436695.2:n.138-129_138-128insGTT
ENST00000529905.5:c.363-129_363-128insGTT	ENSP00000432053.1:n.363-129_363-128insGTT
ENST00000530704.5:c.363-129_363-128insGTT	ENSP00000431655.1:n.363-129_363-128insGTT
NM_000310.3:c.363-129_363-128insGTT , LRG_690t1:c.363-129_363-128insGTT	NP_000301.1:n.363-129_363-128insGTT
NM_001142604.1:c.125-2016_125-2015insGTT	NP_001136076.1:n.125-2016_125-2015insGTT
XM_005271008.1:c.363-129_363-128insGTT	XP_005271065.1:n.363-129_363-128insGTT
NM_001363695.1:c.363-129_363-128insGTT	NP_001350624.1:n.363-129_363-128insGTT
NM_000310.4:c.363-129_363-128insGTT MANE Select	NP_000301.1:n.363-129_363-128insGTT
NM_001142604.2:c.125-2016_125-2015insGTT	NP_001136076.1:n.125-2016_125-2015insGTT
NM_001363695.2:c.363-129_363-128insGTT	NP_001350624.1:n.363-129_363-128insGTT