Canonical Allele Identifier: CA2509492716

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40091459_40091460insGGGTTAGAATACAGAAAAAAGAA , CM000663.2:g.40091459_40091460insGGGTTAGAATACAGAAAAAAGAA	GRCh38
NC_000001.10:g.40557131_40557132insGGGTTAGAATACAGAAAAAAGAA , CM000663.1:g.40557131_40557132insGGGTTAGAATACAGAAAAAAGAA	GRCh37
NC_000001.9:g.40329718_40329719insGGGTTAGAATACAGAAAAAAGAA	NCBI36
NG_009192.1:g.11011_11012insTTCTTTTTTCTGTATTCTAACCC , LRG_690:g.11011_11012insTTCTTTTTTCTGTATTCTAACCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*199-61_*199-60insTTCTTTTTTCTGTATTCTAACCC	ENSP00000361865.5:n.*199-61_*199-60insTTCTTTTTTCTGTATTCTAACCC...
ENST00000433473.8:c.360-61_360-60insTTCTTTTTTCTGTATTCTAACCC	ENSP00000394863.4:n.360-61_360-60insTTCTTTTTTCTGTATTCTAACCC
ENST00000439754.6:c.363-61_363-60insTTCTTTTTTCTGTATTCTAACCC	ENSP00000403207.2:n.363-61_363-60insTTCTTTTTTCTGTATTCTAACCC
ENST00000449045.7:c.125-1948_125-1947insTTCTTTTTTCTGTATTCTAACCC	ENSP00000392293.2:n.125-1948_125-1947insTTCTTTTTTCTGTATTCTAAC...
ENST00000526547.2:c.643-61_643-60insTTCTTTTTTCTGTATTCTAACCC
ENST00000527311.7:c.235-61_235-60insTTCTTTTTTCTGTATTCTAACCC	ENSP00000436695.3:n.235-61_235-60insTTCTTTTTTCTGTATTCTAACCC
ENST00000530704.6:c.363-61_363-60insTTCTTTTTTCTGTATTCTAACCC	ENSP00000431655.1:n.363-61_363-60insTTCTTTTTTCTGTATTCTAACCC
ENST00000641083.1:c.341-61_341-60insTTCTTTTTTCTGTATTCTAACCC
ENST00000641236.1:n.600-61_600-60insTTCTTTTTTCTGTATTCTAACCC
ENST00000641319.1:c.363-61_363-60insTTCTTTTTTCTGTATTCTAACCC	ENSP00000493128.1:n.363-61_363-60insTTCTTTTTTCTGTATTCTAACCC
ENST00000641471.1:c.450-61_450-60insTTCTTTTTTCTGTATTCTAACCC	ENSP00000493146.1:n.450-61_450-60insTTCTTTTTTCTGTATTCTAACCC
ENST00000641548.1:c.*215-61_*215-60insTTCTTTTTTCTGTATTCTAACCC	ENSP00000492984.1:n.*215-61_*215-60insTTCTTTTTTCTGTATTCTAACCC...
ENST00000641691.1:c.*215-61_*215-60insTTCTTTTTTCTGTATTCTAACCC	ENSP00000492910.1:n.*215-61_*215-60insTTCTTTTTTCTGTATTCTAACCC...
ENST00000641924.1:c.124+5655_124+5656insTTCTTTTTTCTGTATTCTAACCC	ENSP00000493063.1:n.124+5655_124+5656insTTCTTTTTTCTGTATTCTAAC...
ENST00000642050.2:c.363-61_363-60insTTCTTTTTTCTGTATTCTAACCC MANE Select	ENSP00000493153.1:n.363-61_363-60insTTCTTTTTTCTGTATTCTAACCC
ENST00000372779.8:c.450-61_450-60insTTCTTTTTTCTGTATTCTAACCC	ENSP00000361865.4:n.450-61_450-60insTTCTTTTTTCTGTATTCTAACCC
ENST00000433473.7:c.363-61_363-60insTTCTTTTTTCTGTATTCTAACCC	ENSP00000394863.3:n.363-61_363-60insTTCTTTTTTCTGTATTCTAACCC
ENST00000439754.5:c.48-61_48-60insTTCTTTTTTCTGTATTCTAACCC	ENSP00000403207.1:n.48-61_48-60insTTCTTTTTTCTGTATTCTAACCC
ENST00000449045.6:c.125-1948_125-1947insTTCTTTTTTCTGTATTCTAACCC	ENSP00000392293.2:n.125-1948_125-1947insTTCTTTTTTCTGTATTCTAAC...
ENST00000526547.1:c.213-61_213-60insTTCTTTTTTCTGTATTCTAACCC	ENSP00000436481.1:n.213-61_213-60insTTCTTTTTTCTGTATTCTAACCC
ENST00000527311.6:c.138-61_138-60insTTCTTTTTTCTGTATTCTAACCC	ENSP00000436695.2:n.138-61_138-60insTTCTTTTTTCTGTATTCTAACCC
ENST00000529905.5:c.363-61_363-60insTTCTTTTTTCTGTATTCTAACCC	ENSP00000432053.1:n.363-61_363-60insTTCTTTTTTCTGTATTCTAACCC
ENST00000530704.5:c.363-61_363-60insTTCTTTTTTCTGTATTCTAACCC	ENSP00000431655.1:n.363-61_363-60insTTCTTTTTTCTGTATTCTAACCC
NM_000310.3:c.363-61_363-60insTTCTTTTTTCTGTATTCTAACCC , LRG_690t1:c.363-61_363-60insTTCTTTTTTCTGTATTCTAACCC	NP_000301.1:n.363-61_363-60insTTCTTTTTTCTGTATTCTAACCC
NM_001142604.1:c.125-1948_125-1947insTTCTTTTTTCTGTATTCTAACCC	NP_001136076.1:n.125-1948_125-1947insTTCTTTTTTCTGTATTCTAACCC
XM_005271008.1:c.363-61_363-60insTTCTTTTTTCTGTATTCTAACCC	XP_005271065.1:n.363-61_363-60insTTCTTTTTTCTGTATTCTAACCC
NM_001363695.1:c.363-61_363-60insTTCTTTTTTCTGTATTCTAACCC	NP_001350624.1:n.363-61_363-60insTTCTTTTTTCTGTATTCTAACCC
NM_000310.4:c.363-61_363-60insTTCTTTTTTCTGTATTCTAACCC MANE Select	NP_000301.1:n.363-61_363-60insTTCTTTTTTCTGTATTCTAACCC
NM_001142604.2:c.125-1948_125-1947insTTCTTTTTTCTGTATTCTAACCC	NP_001136076.1:n.125-1948_125-1947insTTCTTTTTTCTGTATTCTAACCC
NM_001363695.2:c.363-61_363-60insTTCTTTTTTCTGTATTCTAACCC	NP_001350624.1:n.363-61_363-60insTTCTTTTTTCTGTATTCTAACCC