Canonical Allele Identifier: CA2743276986

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40091588_40091589insA , CM000663.2:g.40091588_40091589insA	GRCh38
NC_000001.10:g.40557260_40557261insA , CM000663.1:g.40557260_40557261insA	GRCh37
NC_000001.9:g.40329847_40329848insA	NCBI36
NG_009192.1:g.10882_10883insT , LRG_690:g.10882_10883insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*199-190_*199-189insT	ENSP00000361865.5:n.*199-190_*199-189insT
ENST00000433473.8:c.360-190_360-189insT	ENSP00000394863.4:n.360-190_360-189insT
ENST00000439754.6:c.363-190_363-189insT	ENSP00000403207.2:n.363-190_363-189insT
ENST00000449045.7:c.125-2077_125-2076insT	ENSP00000392293.2:n.125-2077_125-2076insT
ENST00000526547.2:c.643-190_643-189insT
ENST00000527311.7:c.235-190_235-189insT	ENSP00000436695.3:n.235-190_235-189insT
ENST00000530704.6:c.363-190_363-189insT	ENSP00000431655.1:n.363-190_363-189insT
ENST00000641083.1:c.341-190_341-189insT
ENST00000641236.1:n.600-190_600-189insT
ENST00000641319.1:c.363-190_363-189insT	ENSP00000493128.1:n.363-190_363-189insT
ENST00000641471.1:c.450-190_450-189insT	ENSP00000493146.1:n.450-190_450-189insT
ENST00000641548.1:c.*215-190_*215-189insT	ENSP00000492984.1:n.*215-190_*215-189insT
ENST00000641691.1:c.*215-190_*215-189insT	ENSP00000492910.1:n.*215-190_*215-189insT
ENST00000641924.1:c.124+5526_124+5527insT	ENSP00000493063.1:n.124+5526_124+5527insT
ENST00000642050.2:c.363-190_363-189insT MANE Select	ENSP00000493153.1:n.363-190_363-189insT
ENST00000372779.8:c.450-190_450-189insT	ENSP00000361865.4:n.450-190_450-189insT
ENST00000433473.7:c.363-190_363-189insT	ENSP00000394863.3:n.363-190_363-189insT
ENST00000439754.5:c.48-190_48-189insT	ENSP00000403207.1:n.48-190_48-189insT
ENST00000449045.6:c.125-2077_125-2076insT	ENSP00000392293.2:n.125-2077_125-2076insT
ENST00000526547.1:c.213-190_213-189insT	ENSP00000436481.1:n.213-190_213-189insT
ENST00000527311.6:c.138-190_138-189insT	ENSP00000436695.2:n.138-190_138-189insT
ENST00000529905.5:c.363-190_363-189insT	ENSP00000432053.1:n.363-190_363-189insT
ENST00000530704.5:c.363-190_363-189insT	ENSP00000431655.1:n.363-190_363-189insT
NM_000310.3:c.363-190_363-189insT , LRG_690t1:c.363-190_363-189insT	NP_000301.1:n.363-190_363-189insT
NM_001142604.1:c.125-2077_125-2076insT	NP_001136076.1:n.125-2077_125-2076insT
XM_005271008.1:c.363-190_363-189insT	XP_005271065.1:n.363-190_363-189insT
NM_001363695.1:c.363-190_363-189insT	NP_001350624.1:n.363-190_363-189insT
NM_000310.4:c.363-190_363-189insT MANE Select	NP_000301.1:n.363-190_363-189insT
NM_001142604.2:c.125-2077_125-2076insT	NP_001136076.1:n.125-2077_125-2076insT
NM_001363695.2:c.363-190_363-189insT	NP_001350624.1:n.363-190_363-189insT