Canonical Allele Identifier: CA1164251592

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40091566_40091574delinsAAATAAATT , CM000663.2:g.40091566_40091574delinsAAATAAATT	GRCh38
NC_000001.10:g.40557238_40557246delinsAAATAAATT , CM000663.1:g.40557238_40557246delinsAAATAAATT	GRCh37
NC_000001.9:g.40329825_40329833delinsAAATAAATT	NCBI36
NG_009192.1:g.10897_10905delinsAATTTATTT , LRG_690:g.10897_10905delinsAATTTATTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*199-175_*199-167delinsAATTTATTT	ENSP00000361865.5:n.*199-175_*199-167delinsAATTTATTT
ENST00000433473.8:c.360-175_360-167delinsAATTTATTT	ENSP00000394863.4:n.360-175_360-167delinsAATTTATTT
ENST00000439754.6:c.363-175_363-167delinsAATTTATTT	ENSP00000403207.2:n.363-175_363-167delinsAATTTATTT
ENST00000449045.7:c.125-2062_125-2054delinsAATTTATTT	ENSP00000392293.2:n.125-2062_125-2054delinsAATTTATTT
ENST00000526547.2:c.643-175_643-167delinsAATTTATTT
ENST00000527311.7:c.235-175_235-167delinsAATTTATTT	ENSP00000436695.3:n.235-175_235-167delinsAATTTATTT
ENST00000530704.6:c.363-175_363-167delinsAATTTATTT	ENSP00000431655.1:n.363-175_363-167delinsAATTTATTT
ENST00000641083.1:c.341-175_341-167delinsAATTTATTT
ENST00000641236.1:n.600-175_600-167delinsAATTTATTT
ENST00000641319.1:c.363-175_363-167delinsAATTTATTT	ENSP00000493128.1:n.363-175_363-167delinsAATTTATTT
ENST00000641471.1:c.450-175_450-167delinsAATTTATTT	ENSP00000493146.1:n.450-175_450-167delinsAATTTATTT
ENST00000641548.1:c.*215-175_*215-167delinsAATTTATTT	ENSP00000492984.1:n.*215-175_*215-167delinsAATTTATTT
ENST00000641691.1:c.*215-175_*215-167delinsAATTTATTT	ENSP00000492910.1:n.*215-175_*215-167delinsAATTTATTT
ENST00000641924.1:c.124+5541_124+5549delinsAATTTATTT	ENSP00000493063.1:n.124+5541_124+5549delinsAATTTATTT
ENST00000642050.2:c.363-175_363-167delinsAATTTATTT MANE Select	ENSP00000493153.1:n.363-175_363-167delinsAATTTATTT
ENST00000372779.8:c.450-175_450-167delinsAATTTATTT	ENSP00000361865.4:n.450-175_450-167delinsAATTTATTT
ENST00000433473.7:c.363-175_363-167delinsAATTTATTT	ENSP00000394863.3:n.363-175_363-167delinsAATTTATTT
ENST00000439754.5:c.48-175_48-167delinsAATTTATTT	ENSP00000403207.1:n.48-175_48-167delinsAATTTATTT
ENST00000449045.6:c.125-2062_125-2054delinsAATTTATTT	ENSP00000392293.2:n.125-2062_125-2054delinsAATTTATTT
ENST00000526547.1:c.213-175_213-167delinsAATTTATTT	ENSP00000436481.1:n.213-175_213-167delinsAATTTATTT
ENST00000527311.6:c.138-175_138-167delinsAATTTATTT	ENSP00000436695.2:n.138-175_138-167delinsAATTTATTT
ENST00000529905.5:c.363-175_363-167delinsAATTTATTT	ENSP00000432053.1:n.363-175_363-167delinsAATTTATTT
ENST00000530704.5:c.363-175_363-167delinsAATTTATTT	ENSP00000431655.1:n.363-175_363-167delinsAATTTATTT
NM_000310.3:c.363-175_363-167delinsAATTTATTT , LRG_690t1:c.363-175_363-167delinsAATTTATTT	NP_000301.1:n.363-175_363-167delinsAATTTATTT
NM_001142604.1:c.125-2062_125-2054delinsAATTTATTT	NP_001136076.1:n.125-2062_125-2054delinsAATTTATTT
XM_005271008.1:c.363-175_363-167delinsAATTTATTT	XP_005271065.1:n.363-175_363-167delinsAATTTATTT
NM_001363695.1:c.363-175_363-167delinsAATTTATTT	NP_001350624.1:n.363-175_363-167delinsAATTTATTT
NM_000310.4:c.363-175_363-167delinsAATTTATTT MANE Select	NP_000301.1:n.363-175_363-167delinsAATTTATTT
NM_001142604.2:c.125-2062_125-2054delinsAATTTATTT	NP_001136076.1:n.125-2062_125-2054delinsAATTTATTT
NM_001363695.2:c.363-175_363-167delinsAATTTATTT	NP_001350624.1:n.363-175_363-167delinsAATTTATTT