Canonical Allele Identifier: CA2743276878

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40091547_40091548insAGAA , CM000663.2:g.40091547_40091548insAGAA	GRCh38
NC_000001.10:g.40557219_40557220insAGAA , CM000663.1:g.40557219_40557220insAGAA	GRCh37
NC_000001.9:g.40329806_40329807insAGAA	NCBI36
NG_009192.1:g.10923_10924insTTCT , LRG_690:g.10923_10924insTTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*199-149_*199-148insTTCT	ENSP00000361865.5:n.*199-149_*199-148insTTCT
ENST00000433473.8:c.360-149_360-148insTTCT	ENSP00000394863.4:n.360-149_360-148insTTCT
ENST00000439754.6:c.363-149_363-148insTTCT	ENSP00000403207.2:n.363-149_363-148insTTCT
ENST00000449045.7:c.125-2036_125-2035insTTCT	ENSP00000392293.2:n.125-2036_125-2035insTTCT
ENST00000526547.2:c.643-149_643-148insTTCT
ENST00000527311.7:c.235-149_235-148insTTCT	ENSP00000436695.3:n.235-149_235-148insTTCT
ENST00000530704.6:c.363-149_363-148insTTCT	ENSP00000431655.1:n.363-149_363-148insTTCT
ENST00000641083.1:c.341-149_341-148insTTCT
ENST00000641236.1:n.600-149_600-148insTTCT
ENST00000641319.1:c.363-149_363-148insTTCT	ENSP00000493128.1:n.363-149_363-148insTTCT
ENST00000641471.1:c.450-149_450-148insTTCT	ENSP00000493146.1:n.450-149_450-148insTTCT
ENST00000641548.1:c.*215-149_*215-148insTTCT	ENSP00000492984.1:n.*215-149_*215-148insTTCT
ENST00000641691.1:c.*215-149_*215-148insTTCT	ENSP00000492910.1:n.*215-149_*215-148insTTCT
ENST00000641924.1:c.124+5567_124+5568insTTCT	ENSP00000493063.1:n.124+5567_124+5568insTTCT
ENST00000642050.2:c.363-149_363-148insTTCT MANE Select	ENSP00000493153.1:n.363-149_363-148insTTCT
ENST00000372779.8:c.450-149_450-148insTTCT	ENSP00000361865.4:n.450-149_450-148insTTCT
ENST00000433473.7:c.363-149_363-148insTTCT	ENSP00000394863.3:n.363-149_363-148insTTCT
ENST00000439754.5:c.48-149_48-148insTTCT	ENSP00000403207.1:n.48-149_48-148insTTCT
ENST00000449045.6:c.125-2036_125-2035insTTCT	ENSP00000392293.2:n.125-2036_125-2035insTTCT
ENST00000526547.1:c.213-149_213-148insTTCT	ENSP00000436481.1:n.213-149_213-148insTTCT
ENST00000527311.6:c.138-149_138-148insTTCT	ENSP00000436695.2:n.138-149_138-148insTTCT
ENST00000529905.5:c.363-149_363-148insTTCT	ENSP00000432053.1:n.363-149_363-148insTTCT
ENST00000530704.5:c.363-149_363-148insTTCT	ENSP00000431655.1:n.363-149_363-148insTTCT
NM_000310.3:c.363-149_363-148insTTCT , LRG_690t1:c.363-149_363-148insTTCT	NP_000301.1:n.363-149_363-148insTTCT
NM_001142604.1:c.125-2036_125-2035insTTCT	NP_001136076.1:n.125-2036_125-2035insTTCT
XM_005271008.1:c.363-149_363-148insTTCT	XP_005271065.1:n.363-149_363-148insTTCT
NM_001363695.1:c.363-149_363-148insTTCT	NP_001350624.1:n.363-149_363-148insTTCT
NM_000310.4:c.363-149_363-148insTTCT MANE Select	NP_000301.1:n.363-149_363-148insTTCT
NM_001142604.2:c.125-2036_125-2035insTTCT	NP_001136076.1:n.125-2036_125-2035insTTCT
NM_001363695.2:c.363-149_363-148insTTCT	NP_001350624.1:n.363-149_363-148insTTCT