Canonical Allele Identifier: CA2743276901

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40091556_40091563del , CM000663.2:g.40091556_40091563del	GRCh38
NC_000001.10:g.40557228_40557235del , CM000663.1:g.40557228_40557235del	GRCh37
NC_000001.9:g.40329815_40329822del	NCBI36
NG_009192.1:g.10909_10916del , LRG_690:g.10909_10916del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*199-163_*199-156del	ENSP00000361865.5:n.*199-163_*199-156del
ENST00000433473.8:c.360-163_360-156del	ENSP00000394863.4:n.360-163_360-156del
ENST00000439754.6:c.363-163_363-156del	ENSP00000403207.2:n.363-163_363-156del
ENST00000449045.7:c.125-2050_125-2043del	ENSP00000392293.2:n.125-2050_125-2043del
ENST00000526547.2:c.643-163_643-156del
ENST00000527311.7:c.235-163_235-156del	ENSP00000436695.3:n.235-163_235-156del
ENST00000530704.6:c.363-163_363-156del	ENSP00000431655.1:n.363-163_363-156del
ENST00000641083.1:c.341-163_341-156del
ENST00000641236.1:n.600-163_600-156del
ENST00000641319.1:c.363-163_363-156del	ENSP00000493128.1:n.363-163_363-156del
ENST00000641471.1:c.450-163_450-156del	ENSP00000493146.1:n.450-163_450-156del
ENST00000641548.1:c.*215-163_*215-156del	ENSP00000492984.1:n.*215-163_*215-156del
ENST00000641691.1:c.*215-163_*215-156del	ENSP00000492910.1:n.*215-163_*215-156del
ENST00000641924.1:c.124+5553_124+5560del	ENSP00000493063.1:n.124+5553_124+5560del
ENST00000642050.2:c.363-163_363-156del MANE Select	ENSP00000493153.1:n.363-163_363-156del
ENST00000372779.8:c.450-163_450-156del	ENSP00000361865.4:n.450-163_450-156del
ENST00000433473.7:c.363-163_363-156del	ENSP00000394863.3:n.363-163_363-156del
ENST00000439754.5:c.48-163_48-156del	ENSP00000403207.1:n.48-163_48-156del
ENST00000449045.6:c.125-2050_125-2043del	ENSP00000392293.2:n.125-2050_125-2043del
ENST00000526547.1:c.213-163_213-156del	ENSP00000436481.1:n.213-163_213-156del
ENST00000527311.6:c.138-163_138-156del	ENSP00000436695.2:n.138-163_138-156del
ENST00000529905.5:c.363-163_363-156del	ENSP00000432053.1:n.363-163_363-156del
ENST00000530704.5:c.363-163_363-156del	ENSP00000431655.1:n.363-163_363-156del
NM_000310.3:c.363-163_363-156del , LRG_690t1:c.363-163_363-156del	NP_000301.1:n.363-163_363-156del
NM_001142604.1:c.125-2050_125-2043del	NP_001136076.1:n.125-2050_125-2043del
XM_005271008.1:c.363-163_363-156del	XP_005271065.1:n.363-163_363-156del
NM_001363695.1:c.363-163_363-156del	NP_001350624.1:n.363-163_363-156del
NM_000310.4:c.363-163_363-156del MANE Select	NP_000301.1:n.363-163_363-156del
NM_001142604.2:c.125-2050_125-2043del	NP_001136076.1:n.125-2050_125-2043del
NM_001363695.2:c.363-163_363-156del	NP_001350624.1:n.363-163_363-156del