Canonical Allele Identifier: CA2743276744

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40091493_40091494insACA , CM000663.2:g.40091493_40091494insACA	GRCh38
NC_000001.10:g.40557165_40557166insACA , CM000663.1:g.40557165_40557166insACA	GRCh37
NC_000001.9:g.40329752_40329753insACA	NCBI36
NG_009192.1:g.10977_10978insTGT , LRG_690:g.10977_10978insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*199-95_*199-94insTGT	ENSP00000361865.5:n.*199-95_*199-94insTGT
ENST00000433473.8:c.360-95_360-94insTGT	ENSP00000394863.4:n.360-95_360-94insTGT
ENST00000439754.6:c.363-95_363-94insTGT	ENSP00000403207.2:n.363-95_363-94insTGT
ENST00000449045.7:c.125-1982_125-1981insTGT	ENSP00000392293.2:n.125-1982_125-1981insTGT
ENST00000526547.2:c.643-95_643-94insTGT
ENST00000527311.7:c.235-95_235-94insTGT	ENSP00000436695.3:n.235-95_235-94insTGT
ENST00000530704.6:c.363-95_363-94insTGT	ENSP00000431655.1:n.363-95_363-94insTGT
ENST00000641083.1:c.341-95_341-94insTGT
ENST00000641236.1:n.600-95_600-94insTGT
ENST00000641319.1:c.363-95_363-94insTGT	ENSP00000493128.1:n.363-95_363-94insTGT
ENST00000641471.1:c.450-95_450-94insTGT	ENSP00000493146.1:n.450-95_450-94insTGT
ENST00000641548.1:c.*215-95_*215-94insTGT	ENSP00000492984.1:n.*215-95_*215-94insTGT
ENST00000641691.1:c.*215-95_*215-94insTGT	ENSP00000492910.1:n.*215-95_*215-94insTGT
ENST00000641924.1:c.124+5621_124+5622insTGT	ENSP00000493063.1:n.124+5621_124+5622insTGT
ENST00000642050.2:c.363-95_363-94insTGT MANE Select	ENSP00000493153.1:n.363-95_363-94insTGT
ENST00000372779.8:c.450-95_450-94insTGT	ENSP00000361865.4:n.450-95_450-94insTGT
ENST00000433473.7:c.363-95_363-94insTGT	ENSP00000394863.3:n.363-95_363-94insTGT
ENST00000439754.5:c.48-95_48-94insTGT	ENSP00000403207.1:n.48-95_48-94insTGT
ENST00000449045.6:c.125-1982_125-1981insTGT	ENSP00000392293.2:n.125-1982_125-1981insTGT
ENST00000526547.1:c.213-95_213-94insTGT	ENSP00000436481.1:n.213-95_213-94insTGT
ENST00000527311.6:c.138-95_138-94insTGT	ENSP00000436695.2:n.138-95_138-94insTGT
ENST00000529905.5:c.363-95_363-94insTGT	ENSP00000432053.1:n.363-95_363-94insTGT
ENST00000530704.5:c.363-95_363-94insTGT	ENSP00000431655.1:n.363-95_363-94insTGT
NM_000310.3:c.363-95_363-94insTGT , LRG_690t1:c.363-95_363-94insTGT	NP_000301.1:n.363-95_363-94insTGT
NM_001142604.1:c.125-1982_125-1981insTGT	NP_001136076.1:n.125-1982_125-1981insTGT
XM_005271008.1:c.363-95_363-94insTGT	XP_005271065.1:n.363-95_363-94insTGT
NM_001363695.1:c.363-95_363-94insTGT	NP_001350624.1:n.363-95_363-94insTGT
NM_000310.4:c.363-95_363-94insTGT MANE Select	NP_000301.1:n.363-95_363-94insTGT
NM_001142604.2:c.125-1982_125-1981insTGT	NP_001136076.1:n.125-1982_125-1981insTGT
NM_001363695.2:c.363-95_363-94insTGT	NP_001350624.1:n.363-95_363-94insTGT