Canonical Allele Identifier: CA2743276731

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40091490_40091491insAG , CM000663.2:g.40091490_40091491insAG	GRCh38
NC_000001.10:g.40557162_40557163insAG , CM000663.1:g.40557162_40557163insAG	GRCh37
NC_000001.9:g.40329749_40329750insAG	NCBI36
NG_009192.1:g.10980_10981insCT , LRG_690:g.10980_10981insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*199-92_*199-91insCT	ENSP00000361865.5:n.*199-92_*199-91insCT
ENST00000433473.8:c.360-92_360-91insCT	ENSP00000394863.4:n.360-92_360-91insCT
ENST00000439754.6:c.363-92_363-91insCT	ENSP00000403207.2:n.363-92_363-91insCT
ENST00000449045.7:c.125-1979_125-1978insCT	ENSP00000392293.2:n.125-1979_125-1978insCT
ENST00000526547.2:c.643-92_643-91insCT
ENST00000527311.7:c.235-92_235-91insCT	ENSP00000436695.3:n.235-92_235-91insCT
ENST00000530704.6:c.363-92_363-91insCT	ENSP00000431655.1:n.363-92_363-91insCT
ENST00000641083.1:c.341-92_341-91insCT
ENST00000641236.1:n.600-92_600-91insCT
ENST00000641319.1:c.363-92_363-91insCT	ENSP00000493128.1:n.363-92_363-91insCT
ENST00000641471.1:c.450-92_450-91insCT	ENSP00000493146.1:n.450-92_450-91insCT
ENST00000641548.1:c.*215-92_*215-91insCT	ENSP00000492984.1:n.*215-92_*215-91insCT
ENST00000641691.1:c.*215-92_*215-91insCT	ENSP00000492910.1:n.*215-92_*215-91insCT
ENST00000641924.1:c.124+5624_124+5625insCT	ENSP00000493063.1:n.124+5624_124+5625insCT
ENST00000642050.2:c.363-92_363-91insCT MANE Select	ENSP00000493153.1:n.363-92_363-91insCT
ENST00000372779.8:c.450-92_450-91insCT	ENSP00000361865.4:n.450-92_450-91insCT
ENST00000433473.7:c.363-92_363-91insCT	ENSP00000394863.3:n.363-92_363-91insCT
ENST00000439754.5:c.48-92_48-91insCT	ENSP00000403207.1:n.48-92_48-91insCT
ENST00000449045.6:c.125-1979_125-1978insCT	ENSP00000392293.2:n.125-1979_125-1978insCT
ENST00000526547.1:c.213-92_213-91insCT	ENSP00000436481.1:n.213-92_213-91insCT
ENST00000527311.6:c.138-92_138-91insCT	ENSP00000436695.2:n.138-92_138-91insCT
ENST00000529905.5:c.363-92_363-91insCT	ENSP00000432053.1:n.363-92_363-91insCT
ENST00000530704.5:c.363-92_363-91insCT	ENSP00000431655.1:n.363-92_363-91insCT
NM_000310.3:c.363-92_363-91insCT , LRG_690t1:c.363-92_363-91insCT	NP_000301.1:n.363-92_363-91insCT
NM_001142604.1:c.125-1979_125-1978insCT	NP_001136076.1:n.125-1979_125-1978insCT
XM_005271008.1:c.363-92_363-91insCT	XP_005271065.1:n.363-92_363-91insCT
NM_001363695.1:c.363-92_363-91insCT	NP_001350624.1:n.363-92_363-91insCT
NM_000310.4:c.363-92_363-91insCT MANE Select	NP_000301.1:n.363-92_363-91insCT
NM_001142604.2:c.125-1979_125-1978insCT	NP_001136076.1:n.125-1979_125-1978insCT
NM_001363695.2:c.363-92_363-91insCT	NP_001350624.1:n.363-92_363-91insCT