Canonical Allele Identifier: CA2743276718

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40091465_40091467del , CM000663.2:g.40091465_40091467del	GRCh38
NC_000001.10:g.40557137_40557139del , CM000663.1:g.40557137_40557139del	GRCh37
NC_000001.9:g.40329724_40329726del	NCBI36
NG_009192.1:g.11004_11006del , LRG_690:g.11004_11006del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*199-68_*199-66del	ENSP00000361865.5:n.*199-68_*199-66del
ENST00000433473.8:c.360-68_360-66del	ENSP00000394863.4:n.360-68_360-66del
ENST00000439754.6:c.363-68_363-66del	ENSP00000403207.2:n.363-68_363-66del
ENST00000449045.7:c.125-1955_125-1953del	ENSP00000392293.2:n.125-1955_125-1953del
ENST00000526547.2:c.643-68_643-66del
ENST00000527311.7:c.235-68_235-66del	ENSP00000436695.3:n.235-68_235-66del
ENST00000530704.6:c.363-68_363-66del	ENSP00000431655.1:n.363-68_363-66del
ENST00000641083.1:c.341-68_341-66del
ENST00000641236.1:n.600-68_600-66del
ENST00000641319.1:c.363-68_363-66del	ENSP00000493128.1:n.363-68_363-66del
ENST00000641471.1:c.450-68_450-66del	ENSP00000493146.1:n.450-68_450-66del
ENST00000641548.1:c.*215-68_*215-66del	ENSP00000492984.1:n.*215-68_*215-66del
ENST00000641691.1:c.*215-68_*215-66del	ENSP00000492910.1:n.*215-68_*215-66del
ENST00000641924.1:c.124+5648_124+5650del	ENSP00000493063.1:n.124+5648_124+5650del
ENST00000642050.2:c.363-68_363-66del MANE Select	ENSP00000493153.1:n.363-68_363-66del
ENST00000372779.8:c.450-68_450-66del	ENSP00000361865.4:n.450-68_450-66del
ENST00000433473.7:c.363-68_363-66del	ENSP00000394863.3:n.363-68_363-66del
ENST00000439754.5:c.48-68_48-66del	ENSP00000403207.1:n.48-68_48-66del
ENST00000449045.6:c.125-1955_125-1953del	ENSP00000392293.2:n.125-1955_125-1953del
ENST00000526547.1:c.213-68_213-66del	ENSP00000436481.1:n.213-68_213-66del
ENST00000527311.6:c.138-68_138-66del	ENSP00000436695.2:n.138-68_138-66del
ENST00000529905.5:c.363-68_363-66del	ENSP00000432053.1:n.363-68_363-66del
ENST00000530704.5:c.363-68_363-66del	ENSP00000431655.1:n.363-68_363-66del
NM_000310.3:c.363-68_363-66del , LRG_690t1:c.363-68_363-66del	NP_000301.1:n.363-68_363-66del
NM_001142604.1:c.125-1955_125-1953del	NP_001136076.1:n.125-1955_125-1953del
XM_005271008.1:c.363-68_363-66del	XP_005271065.1:n.363-68_363-66del
NM_001363695.1:c.363-68_363-66del	NP_001350624.1:n.363-68_363-66del
NM_000310.4:c.363-68_363-66del MANE Select	NP_000301.1:n.363-68_363-66del
NM_001142604.2:c.125-1955_125-1953del	NP_001136076.1:n.125-1955_125-1953del
NM_001363695.2:c.363-68_363-66del	NP_001350624.1:n.363-68_363-66del