Canonical Allele Identifier: CA1164251700

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40091708_40091709delinsAC , CM000663.2:g.40091708_40091709delinsAC	GRCh38
NC_000001.10:g.40557380_40557381delinsAC , CM000663.1:g.40557380_40557381delinsAC	GRCh37
NC_000001.9:g.40329967_40329968delinsAC	NCBI36
NG_009192.1:g.10762_10763delinsGT , LRG_690:g.10762_10763delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*199-310_*199-309delinsGT	ENSP00000361865.5:n.*199-310_*199-309delinsGT
ENST00000433473.8:c.360-310_360-309delinsGT	ENSP00000394863.4:n.360-310_360-309delinsGT
ENST00000439754.6:c.363-310_363-309delinsGT	ENSP00000403207.2:n.363-310_363-309delinsGT
ENST00000449045.7:c.125-2197_125-2196delinsGT	ENSP00000392293.2:n.125-2197_125-2196delinsGT
ENST00000526547.2:c.643-310_643-309delinsGT
ENST00000527311.7:c.235-310_235-309delinsGT	ENSP00000436695.3:n.235-310_235-309delinsGT
ENST00000530704.6:c.363-310_363-309delinsGT	ENSP00000431655.1:n.363-310_363-309delinsGT
ENST00000641083.1:c.341-310_341-309delinsGT
ENST00000641236.1:n.600-310_600-309delinsGT
ENST00000641319.1:c.363-310_363-309delinsGT	ENSP00000493128.1:n.363-310_363-309delinsGT
ENST00000641471.1:c.450-310_450-309delinsGT	ENSP00000493146.1:n.450-310_450-309delinsGT
ENST00000641548.1:c.*215-310_*215-309delinsGT	ENSP00000492984.1:n.*215-310_*215-309delinsGT
ENST00000641691.1:c.*215-310_*215-309delinsGT	ENSP00000492910.1:n.*215-310_*215-309delinsGT
ENST00000641924.1:c.124+5406_124+5407delinsGT	ENSP00000493063.1:n.124+5406_124+5407delinsGT
ENST00000642050.2:c.363-310_363-309delinsGT MANE Select	ENSP00000493153.1:n.363-310_363-309delinsGT
ENST00000372779.8:c.450-310_450-309delinsGT	ENSP00000361865.4:n.450-310_450-309delinsGT
ENST00000433473.7:c.363-310_363-309delinsGT	ENSP00000394863.3:n.363-310_363-309delinsGT
ENST00000439754.5:c.48-310_48-309delinsGT	ENSP00000403207.1:n.48-310_48-309delinsGT
ENST00000449045.6:c.125-2197_125-2196delinsGT	ENSP00000392293.2:n.125-2197_125-2196delinsGT
ENST00000526547.1:c.213-310_213-309delinsGT	ENSP00000436481.1:n.213-310_213-309delinsGT
ENST00000527311.6:c.138-310_138-309delinsGT	ENSP00000436695.2:n.138-310_138-309delinsGT
ENST00000529905.5:c.363-310_363-309delinsGT	ENSP00000432053.1:n.363-310_363-309delinsGT
ENST00000530704.5:c.363-310_363-309delinsGT	ENSP00000431655.1:n.363-310_363-309delinsGT
NM_000310.3:c.363-310_363-309delinsGT , LRG_690t1:c.363-310_363-309delinsGT	NP_000301.1:n.363-310_363-309delinsGT
NM_001142604.1:c.125-2197_125-2196delinsGT	NP_001136076.1:n.125-2197_125-2196delinsGT
XM_005271008.1:c.363-310_363-309delinsGT	XP_005271065.1:n.363-310_363-309delinsGT
NM_001363695.1:c.363-310_363-309delinsGT	NP_001350624.1:n.363-310_363-309delinsGT
NM_000310.4:c.363-310_363-309delinsGT MANE Select	NP_000301.1:n.363-310_363-309delinsGT
NM_001142604.2:c.125-2197_125-2196delinsGT	NP_001136076.1:n.125-2197_125-2196delinsGT
NM_001363695.2:c.363-310_363-309delinsGT	NP_001350624.1:n.363-310_363-309delinsGT