Canonical Allele Identifier: CA2743276815

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40091520_40091521insACA , CM000663.2:g.40091520_40091521insACA	GRCh38
NC_000001.10:g.40557192_40557193insACA , CM000663.1:g.40557192_40557193insACA	GRCh37
NC_000001.9:g.40329779_40329780insACA	NCBI36
NG_009192.1:g.10950_10951insTGT , LRG_690:g.10950_10951insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*199-122_*199-121insTGT	ENSP00000361865.5:n.*199-122_*199-121insTGT
ENST00000433473.8:c.360-122_360-121insTGT	ENSP00000394863.4:n.360-122_360-121insTGT
ENST00000439754.6:c.363-122_363-121insTGT	ENSP00000403207.2:n.363-122_363-121insTGT
ENST00000449045.7:c.125-2009_125-2008insTGT	ENSP00000392293.2:n.125-2009_125-2008insTGT
ENST00000526547.2:c.643-122_643-121insTGT
ENST00000527311.7:c.235-122_235-121insTGT	ENSP00000436695.3:n.235-122_235-121insTGT
ENST00000530704.6:c.363-122_363-121insTGT	ENSP00000431655.1:n.363-122_363-121insTGT
ENST00000641083.1:c.341-122_341-121insTGT
ENST00000641236.1:n.600-122_600-121insTGT
ENST00000641319.1:c.363-122_363-121insTGT	ENSP00000493128.1:n.363-122_363-121insTGT
ENST00000641471.1:c.450-122_450-121insTGT	ENSP00000493146.1:n.450-122_450-121insTGT
ENST00000641548.1:c.*215-122_*215-121insTGT	ENSP00000492984.1:n.*215-122_*215-121insTGT
ENST00000641691.1:c.*215-122_*215-121insTGT	ENSP00000492910.1:n.*215-122_*215-121insTGT
ENST00000641924.1:c.124+5594_124+5595insTGT	ENSP00000493063.1:n.124+5594_124+5595insTGT
ENST00000642050.2:c.363-122_363-121insTGT MANE Select	ENSP00000493153.1:n.363-122_363-121insTGT
ENST00000372779.8:c.450-122_450-121insTGT	ENSP00000361865.4:n.450-122_450-121insTGT
ENST00000433473.7:c.363-122_363-121insTGT	ENSP00000394863.3:n.363-122_363-121insTGT
ENST00000439754.5:c.48-122_48-121insTGT	ENSP00000403207.1:n.48-122_48-121insTGT
ENST00000449045.6:c.125-2009_125-2008insTGT	ENSP00000392293.2:n.125-2009_125-2008insTGT
ENST00000526547.1:c.213-122_213-121insTGT	ENSP00000436481.1:n.213-122_213-121insTGT
ENST00000527311.6:c.138-122_138-121insTGT	ENSP00000436695.2:n.138-122_138-121insTGT
ENST00000529905.5:c.363-122_363-121insTGT	ENSP00000432053.1:n.363-122_363-121insTGT
ENST00000530704.5:c.363-122_363-121insTGT	ENSP00000431655.1:n.363-122_363-121insTGT
NM_000310.3:c.363-122_363-121insTGT , LRG_690t1:c.363-122_363-121insTGT	NP_000301.1:n.363-122_363-121insTGT
NM_001142604.1:c.125-2009_125-2008insTGT	NP_001136076.1:n.125-2009_125-2008insTGT
XM_005271008.1:c.363-122_363-121insTGT	XP_005271065.1:n.363-122_363-121insTGT
NM_001363695.1:c.363-122_363-121insTGT	NP_001350624.1:n.363-122_363-121insTGT
NM_000310.4:c.363-122_363-121insTGT MANE Select	NP_000301.1:n.363-122_363-121insTGT
NM_001142604.2:c.125-2009_125-2008insTGT	NP_001136076.1:n.125-2009_125-2008insTGT
NM_001363695.2:c.363-122_363-121insTGT	NP_001350624.1:n.363-122_363-121insTGT