Canonical Allele Identifier: CA2743276864

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40091541_40091547del , CM000663.2:g.40091541_40091547del	GRCh38
NC_000001.10:g.40557213_40557219del , CM000663.1:g.40557213_40557219del	GRCh37
NC_000001.9:g.40329800_40329806del	NCBI36
NG_009192.1:g.10924_10930del , LRG_690:g.10924_10930del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*199-148_*199-142del	ENSP00000361865.5:n.*199-148_*199-142del
ENST00000433473.8:c.360-148_360-142del	ENSP00000394863.4:n.360-148_360-142del
ENST00000439754.6:c.363-148_363-142del	ENSP00000403207.2:n.363-148_363-142del
ENST00000449045.7:c.125-2035_125-2029del	ENSP00000392293.2:n.125-2035_125-2029del
ENST00000526547.2:c.643-148_643-142del
ENST00000527311.7:c.235-148_235-142del	ENSP00000436695.3:n.235-148_235-142del
ENST00000530704.6:c.363-148_363-142del	ENSP00000431655.1:n.363-148_363-142del
ENST00000641083.1:c.341-148_341-142del
ENST00000641236.1:n.600-148_600-142del
ENST00000641319.1:c.363-148_363-142del	ENSP00000493128.1:n.363-148_363-142del
ENST00000641471.1:c.450-148_450-142del	ENSP00000493146.1:n.450-148_450-142del
ENST00000641548.1:c.*215-148_*215-142del	ENSP00000492984.1:n.*215-148_*215-142del
ENST00000641691.1:c.*215-148_*215-142del	ENSP00000492910.1:n.*215-148_*215-142del
ENST00000641924.1:c.124+5568_124+5574del	ENSP00000493063.1:n.124+5568_124+5574del
ENST00000642050.2:c.363-148_363-142del MANE Select	ENSP00000493153.1:n.363-148_363-142del
ENST00000372779.8:c.450-148_450-142del	ENSP00000361865.4:n.450-148_450-142del
ENST00000433473.7:c.363-148_363-142del	ENSP00000394863.3:n.363-148_363-142del
ENST00000439754.5:c.48-148_48-142del	ENSP00000403207.1:n.48-148_48-142del
ENST00000449045.6:c.125-2035_125-2029del	ENSP00000392293.2:n.125-2035_125-2029del
ENST00000526547.1:c.213-148_213-142del	ENSP00000436481.1:n.213-148_213-142del
ENST00000527311.6:c.138-148_138-142del	ENSP00000436695.2:n.138-148_138-142del
ENST00000529905.5:c.363-148_363-142del	ENSP00000432053.1:n.363-148_363-142del
ENST00000530704.5:c.363-148_363-142del	ENSP00000431655.1:n.363-148_363-142del
NM_000310.3:c.363-148_363-142del , LRG_690t1:c.363-148_363-142del	NP_000301.1:n.363-148_363-142del
NM_001142604.1:c.125-2035_125-2029del	NP_001136076.1:n.125-2035_125-2029del
XM_005271008.1:c.363-148_363-142del	XP_005271065.1:n.363-148_363-142del
NM_001363695.1:c.363-148_363-142del	NP_001350624.1:n.363-148_363-142del
NM_000310.4:c.363-148_363-142del MANE Select	NP_000301.1:n.363-148_363-142del
NM_001142604.2:c.125-2035_125-2029del	NP_001136076.1:n.125-2035_125-2029del
NM_001363695.2:c.363-148_363-142del	NP_001350624.1:n.363-148_363-142del