Canonical Allele Identifier: CA2743276786

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40091504_40091505insCA , CM000663.2:g.40091504_40091505insCA	GRCh38
NC_000001.10:g.40557176_40557177insCA , CM000663.1:g.40557176_40557177insCA	GRCh37
NC_000001.9:g.40329763_40329764insCA	NCBI36
NG_009192.1:g.10966_10967insTG , LRG_690:g.10966_10967insTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*199-106_*199-105insTG	ENSP00000361865.5:n.*199-106_*199-105insTG
ENST00000433473.8:c.360-106_360-105insTG	ENSP00000394863.4:n.360-106_360-105insTG
ENST00000439754.6:c.363-106_363-105insTG	ENSP00000403207.2:n.363-106_363-105insTG
ENST00000449045.7:c.125-1993_125-1992insTG	ENSP00000392293.2:n.125-1993_125-1992insTG
ENST00000526547.2:c.643-106_643-105insTG
ENST00000527311.7:c.235-106_235-105insTG	ENSP00000436695.3:n.235-106_235-105insTG
ENST00000530704.6:c.363-106_363-105insTG	ENSP00000431655.1:n.363-106_363-105insTG
ENST00000641083.1:c.341-106_341-105insTG
ENST00000641236.1:n.600-106_600-105insTG
ENST00000641319.1:c.363-106_363-105insTG	ENSP00000493128.1:n.363-106_363-105insTG
ENST00000641471.1:c.450-106_450-105insTG	ENSP00000493146.1:n.450-106_450-105insTG
ENST00000641548.1:c.*215-106_*215-105insTG	ENSP00000492984.1:n.*215-106_*215-105insTG
ENST00000641691.1:c.*215-106_*215-105insTG	ENSP00000492910.1:n.*215-106_*215-105insTG
ENST00000641924.1:c.124+5610_124+5611insTG	ENSP00000493063.1:n.124+5610_124+5611insTG
ENST00000642050.2:c.363-106_363-105insTG MANE Select	ENSP00000493153.1:n.363-106_363-105insTG
ENST00000372779.8:c.450-106_450-105insTG	ENSP00000361865.4:n.450-106_450-105insTG
ENST00000433473.7:c.363-106_363-105insTG	ENSP00000394863.3:n.363-106_363-105insTG
ENST00000439754.5:c.48-106_48-105insTG	ENSP00000403207.1:n.48-106_48-105insTG
ENST00000449045.6:c.125-1993_125-1992insTG	ENSP00000392293.2:n.125-1993_125-1992insTG
ENST00000526547.1:c.213-106_213-105insTG	ENSP00000436481.1:n.213-106_213-105insTG
ENST00000527311.6:c.138-106_138-105insTG	ENSP00000436695.2:n.138-106_138-105insTG
ENST00000529905.5:c.363-106_363-105insTG	ENSP00000432053.1:n.363-106_363-105insTG
ENST00000530704.5:c.363-106_363-105insTG	ENSP00000431655.1:n.363-106_363-105insTG
NM_000310.3:c.363-106_363-105insTG , LRG_690t1:c.363-106_363-105insTG	NP_000301.1:n.363-106_363-105insTG
NM_001142604.1:c.125-1993_125-1992insTG	NP_001136076.1:n.125-1993_125-1992insTG
XM_005271008.1:c.363-106_363-105insTG	XP_005271065.1:n.363-106_363-105insTG
NM_001363695.1:c.363-106_363-105insTG	NP_001350624.1:n.363-106_363-105insTG
NM_000310.4:c.363-106_363-105insTG MANE Select	NP_000301.1:n.363-106_363-105insTG
NM_001142604.2:c.125-1993_125-1992insTG	NP_001136076.1:n.125-1993_125-1992insTG
NM_001363695.2:c.363-106_363-105insTG	NP_001350624.1:n.363-106_363-105insTG