Canonical Allele Identifier: CA2743276944

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40091571_40091572insGG , CM000663.2:g.40091571_40091572insGG	GRCh38
NC_000001.10:g.40557243_40557244insGG , CM000663.1:g.40557243_40557244insGG	GRCh37
NC_000001.9:g.40329830_40329831insGG	NCBI36
NG_009192.1:g.10899_10900insCC , LRG_690:g.10899_10900insCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*199-173_*199-172insCC	ENSP00000361865.5:n.*199-173_*199-172insCC
ENST00000433473.8:c.360-173_360-172insCC	ENSP00000394863.4:n.360-173_360-172insCC
ENST00000439754.6:c.363-173_363-172insCC	ENSP00000403207.2:n.363-173_363-172insCC
ENST00000449045.7:c.125-2060_125-2059insCC	ENSP00000392293.2:n.125-2060_125-2059insCC
ENST00000526547.2:c.643-173_643-172insCC
ENST00000527311.7:c.235-173_235-172insCC	ENSP00000436695.3:n.235-173_235-172insCC
ENST00000530704.6:c.363-173_363-172insCC	ENSP00000431655.1:n.363-173_363-172insCC
ENST00000641083.1:c.341-173_341-172insCC
ENST00000641236.1:n.600-173_600-172insCC
ENST00000641319.1:c.363-173_363-172insCC	ENSP00000493128.1:n.363-173_363-172insCC
ENST00000641471.1:c.450-173_450-172insCC	ENSP00000493146.1:n.450-173_450-172insCC
ENST00000641548.1:c.*215-173_*215-172insCC	ENSP00000492984.1:n.*215-173_*215-172insCC
ENST00000641691.1:c.*215-173_*215-172insCC	ENSP00000492910.1:n.*215-173_*215-172insCC
ENST00000641924.1:c.124+5543_124+5544insCC	ENSP00000493063.1:n.124+5543_124+5544insCC
ENST00000642050.2:c.363-173_363-172insCC MANE Select	ENSP00000493153.1:n.363-173_363-172insCC
ENST00000372779.8:c.450-173_450-172insCC	ENSP00000361865.4:n.450-173_450-172insCC
ENST00000433473.7:c.363-173_363-172insCC	ENSP00000394863.3:n.363-173_363-172insCC
ENST00000439754.5:c.48-173_48-172insCC	ENSP00000403207.1:n.48-173_48-172insCC
ENST00000449045.6:c.125-2060_125-2059insCC	ENSP00000392293.2:n.125-2060_125-2059insCC
ENST00000526547.1:c.213-173_213-172insCC	ENSP00000436481.1:n.213-173_213-172insCC
ENST00000527311.6:c.138-173_138-172insCC	ENSP00000436695.2:n.138-173_138-172insCC
ENST00000529905.5:c.363-173_363-172insCC	ENSP00000432053.1:n.363-173_363-172insCC
ENST00000530704.5:c.363-173_363-172insCC	ENSP00000431655.1:n.363-173_363-172insCC
NM_000310.3:c.363-173_363-172insCC , LRG_690t1:c.363-173_363-172insCC	NP_000301.1:n.363-173_363-172insCC
NM_001142604.1:c.125-2060_125-2059insCC	NP_001136076.1:n.125-2060_125-2059insCC
XM_005271008.1:c.363-173_363-172insCC	XP_005271065.1:n.363-173_363-172insCC
NM_001363695.1:c.363-173_363-172insCC	NP_001350624.1:n.363-173_363-172insCC
NM_000310.4:c.363-173_363-172insCC MANE Select	NP_000301.1:n.363-173_363-172insCC
NM_001142604.2:c.125-2060_125-2059insCC	NP_001136076.1:n.125-2060_125-2059insCC
NM_001363695.2:c.363-173_363-172insCC	NP_001350624.1:n.363-173_363-172insCC