Canonical Allele Identifier: CA2743276989

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40091591_40091599del , CM000663.2:g.40091591_40091599del	GRCh38
NC_000001.10:g.40557263_40557271del , CM000663.1:g.40557263_40557271del	GRCh37
NC_000001.9:g.40329850_40329858del	NCBI36
NG_009192.1:g.10872_10880del , LRG_690:g.10872_10880del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*199-200_*199-192del	ENSP00000361865.5:n.*199-200_*199-192del
ENST00000433473.8:c.360-200_360-192del	ENSP00000394863.4:n.360-200_360-192del
ENST00000439754.6:c.363-200_363-192del	ENSP00000403207.2:n.363-200_363-192del
ENST00000449045.7:c.125-2087_125-2079del	ENSP00000392293.2:n.125-2087_125-2079del
ENST00000526547.2:c.643-200_643-192del
ENST00000527311.7:c.235-200_235-192del	ENSP00000436695.3:n.235-200_235-192del
ENST00000530704.6:c.363-200_363-192del	ENSP00000431655.1:n.363-200_363-192del
ENST00000641083.1:c.341-200_341-192del
ENST00000641236.1:n.600-200_600-192del
ENST00000641319.1:c.363-200_363-192del	ENSP00000493128.1:n.363-200_363-192del
ENST00000641471.1:c.450-200_450-192del	ENSP00000493146.1:n.450-200_450-192del
ENST00000641548.1:c.*215-200_*215-192del	ENSP00000492984.1:n.*215-200_*215-192del
ENST00000641691.1:c.*215-200_*215-192del	ENSP00000492910.1:n.*215-200_*215-192del
ENST00000641924.1:c.124+5516_124+5524del	ENSP00000493063.1:n.124+5516_124+5524del
ENST00000642050.2:c.363-200_363-192del MANE Select	ENSP00000493153.1:n.363-200_363-192del
ENST00000372779.8:c.450-200_450-192del	ENSP00000361865.4:n.450-200_450-192del
ENST00000433473.7:c.363-200_363-192del	ENSP00000394863.3:n.363-200_363-192del
ENST00000439754.5:c.48-200_48-192del	ENSP00000403207.1:n.48-200_48-192del
ENST00000449045.6:c.125-2087_125-2079del	ENSP00000392293.2:n.125-2087_125-2079del
ENST00000526547.1:c.213-200_213-192del	ENSP00000436481.1:n.213-200_213-192del
ENST00000527311.6:c.138-200_138-192del	ENSP00000436695.2:n.138-200_138-192del
ENST00000529905.5:c.363-200_363-192del	ENSP00000432053.1:n.363-200_363-192del
ENST00000530704.5:c.363-200_363-192del	ENSP00000431655.1:n.363-200_363-192del
NM_000310.3:c.363-200_363-192del , LRG_690t1:c.363-200_363-192del	NP_000301.1:n.363-200_363-192del
NM_001142604.1:c.125-2087_125-2079del	NP_001136076.1:n.125-2087_125-2079del
XM_005271008.1:c.363-200_363-192del	XP_005271065.1:n.363-200_363-192del
NM_001363695.1:c.363-200_363-192del	NP_001350624.1:n.363-200_363-192del
NM_000310.4:c.363-200_363-192del MANE Select	NP_000301.1:n.363-200_363-192del
NM_001142604.2:c.125-2087_125-2079del	NP_001136076.1:n.125-2087_125-2079del
NM_001363695.2:c.363-200_363-192del	NP_001350624.1:n.363-200_363-192del