Canonical Allele Identifier: CA2743276810

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40091516_40091517insA , CM000663.2:g.40091516_40091517insA	GRCh38
NC_000001.10:g.40557188_40557189insA , CM000663.1:g.40557188_40557189insA	GRCh37
NC_000001.9:g.40329775_40329776insA	NCBI36
NG_009192.1:g.10954_10955insT , LRG_690:g.10954_10955insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*199-118_*199-117insT	ENSP00000361865.5:n.*199-118_*199-117insT
ENST00000433473.8:c.360-118_360-117insT	ENSP00000394863.4:n.360-118_360-117insT
ENST00000439754.6:c.363-118_363-117insT	ENSP00000403207.2:n.363-118_363-117insT
ENST00000449045.7:c.125-2005_125-2004insT	ENSP00000392293.2:n.125-2005_125-2004insT
ENST00000526547.2:c.643-118_643-117insT
ENST00000527311.7:c.235-118_235-117insT	ENSP00000436695.3:n.235-118_235-117insT
ENST00000530704.6:c.363-118_363-117insT	ENSP00000431655.1:n.363-118_363-117insT
ENST00000641083.1:c.341-118_341-117insT
ENST00000641236.1:n.600-118_600-117insT
ENST00000641319.1:c.363-118_363-117insT	ENSP00000493128.1:n.363-118_363-117insT
ENST00000641471.1:c.450-118_450-117insT	ENSP00000493146.1:n.450-118_450-117insT
ENST00000641548.1:c.*215-118_*215-117insT	ENSP00000492984.1:n.*215-118_*215-117insT
ENST00000641691.1:c.*215-118_*215-117insT	ENSP00000492910.1:n.*215-118_*215-117insT
ENST00000641924.1:c.124+5598_124+5599insT	ENSP00000493063.1:n.124+5598_124+5599insT
ENST00000642050.2:c.363-118_363-117insT MANE Select	ENSP00000493153.1:n.363-118_363-117insT
ENST00000372779.8:c.450-118_450-117insT	ENSP00000361865.4:n.450-118_450-117insT
ENST00000433473.7:c.363-118_363-117insT	ENSP00000394863.3:n.363-118_363-117insT
ENST00000439754.5:c.48-118_48-117insT	ENSP00000403207.1:n.48-118_48-117insT
ENST00000449045.6:c.125-2005_125-2004insT	ENSP00000392293.2:n.125-2005_125-2004insT
ENST00000526547.1:c.213-118_213-117insT	ENSP00000436481.1:n.213-118_213-117insT
ENST00000527311.6:c.138-118_138-117insT	ENSP00000436695.2:n.138-118_138-117insT
ENST00000529905.5:c.363-118_363-117insT	ENSP00000432053.1:n.363-118_363-117insT
ENST00000530704.5:c.363-118_363-117insT	ENSP00000431655.1:n.363-118_363-117insT
NM_000310.3:c.363-118_363-117insT , LRG_690t1:c.363-118_363-117insT	NP_000301.1:n.363-118_363-117insT
NM_001142604.1:c.125-2005_125-2004insT	NP_001136076.1:n.125-2005_125-2004insT
XM_005271008.1:c.363-118_363-117insT	XP_005271065.1:n.363-118_363-117insT
NM_001363695.1:c.363-118_363-117insT	NP_001350624.1:n.363-118_363-117insT
NM_000310.4:c.363-118_363-117insT MANE Select	NP_000301.1:n.363-118_363-117insT
NM_001142604.2:c.125-2005_125-2004insT	NP_001136076.1:n.125-2005_125-2004insT
NM_001363695.2:c.363-118_363-117insT	NP_001350624.1:n.363-118_363-117insT