Canonical Allele Identifier: CA1164252266

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092124_40092126delinsCTG , CM000663.2:g.40092124_40092126delinsCTG	GRCh38
NC_000001.10:g.40557796_40557798delinsCTG , CM000663.1:g.40557796_40557798delinsCTG	GRCh37
NC_000001.9:g.40330383_40330385delinsCTG	NCBI36
NG_009192.1:g.10345_10347delinsCAG , LRG_690:g.10345_10347delinsCAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000372779.9:c.*117_*119delinsCAG	ENSP00000361865.5:n.*117_*119delinsCAG
ENST00000433473.8:c.278_280delinsCAG	ENSP00000394863.4:p.Thr93=
ENST00000439754.6:c.281_283delinsCAG	ENSP00000403207.2:p.Thr94=
ENST00000449045.7:c.125-2614_125-2612delinsCAG	ENSP00000392293.2:n.125-2614_125-2612deli...
ENST00000526547.2:c.561_563delinsCAG
ENST00000527311.7:c.234+272_234+274delinsCAG	ENSP00000436695.3:n.234+272_234+274delins...
ENST00000530704.6:c.281_283delinsCAG	ENSP00000431655.1:p.Thr94=
ENST00000641083.1:c.259_261delinsCAG
ENST00000641236.1:n.518_520delinsCAG
ENST00000641319.1:c.281_283delinsCAG	ENSP00000493128.1:p.Thr94=
ENST00000641471.1:c.368_370delinsCAG	ENSP00000493146.1:p.Thr123=
ENST00000641548.1:c.*133_*135delinsCAG	ENSP00000492984.1:n.*133_*135delinsCAG
ENST00000641691.1:c.*133_*135delinsCAG	ENSP00000492910.1:n.*133_*135delinsCAG
ENST00000641924.1:c.124+4989_124+4991delinsCAG	ENSP00000493063.1:n.124+4989_124+4991deli...
ENST00000642050.2:c.281_283delinsCAG MANE Select	ENSP00000493153.1:p.Thr94=
ENST00000372779.8:c.368_370delinsCAG	ENSP00000361865.4:p.Thr123=
ENST00000433473.7:c.281_283delinsCAG	ENSP00000394863.3:p.Thr94=
ENST00000449045.6:c.125-2614_125-2612delinsCAG	ENSP00000392293.2:n.125-2614_125-2612deli...
ENST00000526547.1:c.131_133delinsCAG	ENSP00000436481.1:p.Thr44=
ENST00000527311.6:c.125-69_125-67delinsCAG	ENSP00000436695.2:n.125-69_125-67delinsCA...
ENST00000529905.5:c.281_283delinsCAG	ENSP00000432053.1:p.Thr94=
ENST00000530704.5:c.281_283delinsCAG	ENSP00000431655.1:p.Thr94=
NM_000310.3:c.281_283delinsCAG , LRG_690t1:c.281_283delinsCAG	NP_000301.1:p.Thr94=
NM_001142604.1:c.125-2614_125-2612delinsCAG	NP_001136076.1:n.125-2614_125-2612delinsC...
XM_005271008.1:c.281_283delinsCAG	XP_005271065.1:p.Thr94=
NM_001363695.1:c.281_283delinsCAG	NP_001350624.1:p.Thr94=
NM_000310.4:c.281_283delinsCAG MANE Select	NP_000301.1:p.Thr94=
NM_001142604.2:c.125-2614_125-2612delinsCAG	NP_001136076.1:n.125-2614_125-2612delinsC...
NM_001363695.2:c.281_283delinsCAG	NP_001350624.1:p.Thr94=