Canonical Allele Identifier: CA2743276981

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40091587_40091588insAGA , CM000663.2:g.40091587_40091588insAGA	GRCh38
NC_000001.10:g.40557259_40557260insAGA , CM000663.1:g.40557259_40557260insAGA	GRCh37
NC_000001.9:g.40329846_40329847insAGA	NCBI36
NG_009192.1:g.10883_10884insTCT , LRG_690:g.10883_10884insTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*199-189_*199-188insTCT	ENSP00000361865.5:n.*199-189_*199-188insTCT
ENST00000433473.8:c.360-189_360-188insTCT	ENSP00000394863.4:n.360-189_360-188insTCT
ENST00000439754.6:c.363-189_363-188insTCT	ENSP00000403207.2:n.363-189_363-188insTCT
ENST00000449045.7:c.125-2076_125-2075insTCT	ENSP00000392293.2:n.125-2076_125-2075insTCT
ENST00000526547.2:c.643-189_643-188insTCT
ENST00000527311.7:c.235-189_235-188insTCT	ENSP00000436695.3:n.235-189_235-188insTCT
ENST00000530704.6:c.363-189_363-188insTCT	ENSP00000431655.1:n.363-189_363-188insTCT
ENST00000641083.1:c.341-189_341-188insTCT
ENST00000641236.1:n.600-189_600-188insTCT
ENST00000641319.1:c.363-189_363-188insTCT	ENSP00000493128.1:n.363-189_363-188insTCT
ENST00000641471.1:c.450-189_450-188insTCT	ENSP00000493146.1:n.450-189_450-188insTCT
ENST00000641548.1:c.*215-189_*215-188insTCT	ENSP00000492984.1:n.*215-189_*215-188insTCT
ENST00000641691.1:c.*215-189_*215-188insTCT	ENSP00000492910.1:n.*215-189_*215-188insTCT
ENST00000641924.1:c.124+5527_124+5528insTCT	ENSP00000493063.1:n.124+5527_124+5528insTCT
ENST00000642050.2:c.363-189_363-188insTCT MANE Select	ENSP00000493153.1:n.363-189_363-188insTCT
ENST00000372779.8:c.450-189_450-188insTCT	ENSP00000361865.4:n.450-189_450-188insTCT
ENST00000433473.7:c.363-189_363-188insTCT	ENSP00000394863.3:n.363-189_363-188insTCT
ENST00000439754.5:c.48-189_48-188insTCT	ENSP00000403207.1:n.48-189_48-188insTCT
ENST00000449045.6:c.125-2076_125-2075insTCT	ENSP00000392293.2:n.125-2076_125-2075insTCT
ENST00000526547.1:c.213-189_213-188insTCT	ENSP00000436481.1:n.213-189_213-188insTCT
ENST00000527311.6:c.138-189_138-188insTCT	ENSP00000436695.2:n.138-189_138-188insTCT
ENST00000529905.5:c.363-189_363-188insTCT	ENSP00000432053.1:n.363-189_363-188insTCT
ENST00000530704.5:c.363-189_363-188insTCT	ENSP00000431655.1:n.363-189_363-188insTCT
NM_000310.3:c.363-189_363-188insTCT , LRG_690t1:c.363-189_363-188insTCT	NP_000301.1:n.363-189_363-188insTCT
NM_001142604.1:c.125-2076_125-2075insTCT	NP_001136076.1:n.125-2076_125-2075insTCT
XM_005271008.1:c.363-189_363-188insTCT	XP_005271065.1:n.363-189_363-188insTCT
NM_001363695.1:c.363-189_363-188insTCT	NP_001350624.1:n.363-189_363-188insTCT
NM_000310.4:c.363-189_363-188insTCT MANE Select	NP_000301.1:n.363-189_363-188insTCT
NM_001142604.2:c.125-2076_125-2075insTCT	NP_001136076.1:n.125-2076_125-2075insTCT
NM_001363695.2:c.363-189_363-188insTCT	NP_001350624.1:n.363-189_363-188insTCT