Canonical Allele Identifier: CA1164243702

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074370_40074372delinsTTC , CM000663.2:g.40074370_40074372delinsTTC	GRCh38
NC_000001.10:g.40540042_40540044delinsTTC , CM000663.1:g.40540042_40540044delinsTTC	GRCh37
NC_000001.9:g.40312629_40312631delinsTTC	NCBI36
NG_009192.1:g.28099_28101delinsGAA , LRG_690:g.28099_28101delinsGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.796-189_796-187delinsGAA	ENSP00000394863.4:n.796-189_796-187delinsGAA
ENST00000439754.6:c.727-189_727-187delinsGAA	ENSP00000403207.2:n.727-189_727-187delinsGAA
ENST00000449045.7:c.490-189_490-187delinsGAA	ENSP00000392293.2:n.490-189_490-187delinsGAA
ENST00000527311.7:c.568-189_568-187delinsGAA	ENSP00000436695.3:n.568-189_568-187delinsGAA
ENST00000530076.6:c.142-189_142-187delinsGAA	ENSP00000434007.1:n.142-189_142-187delinsGAA
ENST00000530704.6:c.*422-189_*422-187delinsGAA	ENSP00000431655.1:n.*422-189_*422-187delinsGAA
ENST00000641083.1:c.889-189_889-187delinsGAA
ENST00000641236.1:n.1036-189_1036-187delinsGAA
ENST00000641319.1:c.*9-189_*9-187delinsGAA	ENSP00000493128.1:n.*9-189_*9-187delinsGAA
ENST00000641381.1:c.221-189_221-187delinsGAA
ENST00000641471.1:c.886-189_886-187delinsGAA	ENSP00000493146.1:n.886-189_886-187delinsGAA
ENST00000641691.1:c.*651-189_*651-187delinsGAA	ENSP00000492910.1:n.*651-189_*651-187delinsGAA
ENST00000641924.1:c.*228-189_*228-187delinsGAA	ENSP00000493063.1:n.*228-189_*228-187delinsGAA
ENST00000642050.2:c.799-189_799-187delinsGAA MANE Select	ENSP00000493153.1:n.799-189_799-187delinsGAA
ENST00000372775.2:n.196-189_196-187delinsGAA
ENST00000433473.7:c.799-189_799-187delinsGAA	ENSP00000394863.3:n.799-189_799-187delinsGAA
ENST00000439754.5:c.412-189_412-187delinsGAA	ENSP00000403207.1:n.412-189_412-187delinsGAA
ENST00000449045.6:c.490-189_490-187delinsGAA	ENSP00000392293.2:n.490-189_490-187delinsGAA
ENST00000527311.6:c.574-189_574-187delinsGAA	ENSP00000436695.2:n.574-189_574-187delinsGAA
ENST00000529905.5:c.799-189_799-187delinsGAA	ENSP00000432053.1:n.799-189_799-187delinsGAA
ENST00000530076.5:c.142-189_142-187delinsGAA	ENSP00000434007.1:n.142-189_142-187delinsGAA
ENST00000530704.5:c.*422-189_*422-187delinsGAA	ENSP00000431655.1:n.*422-189_*422-187delinsGAA
NM_000310.3:c.799-189_799-187delinsGAA , LRG_690t1:c.799-189_799-187delinsGAA	NP_000301.1:n.799-189_799-187delinsGAA
NM_001142604.1:c.490-189_490-187delinsGAA	NP_001136076.1:n.490-189_490-187delinsGAA
XM_005271008.1:c.727-189_727-187delinsGAA	XP_005271065.1:n.727-189_727-187delinsGAA
NM_001363695.1:c.727-189_727-187delinsGAA	NP_001350624.1:n.727-189_727-187delinsGAA
NM_000310.4:c.799-189_799-187delinsGAA MANE Select	NP_000301.1:n.799-189_799-187delinsGAA
NM_001142604.2:c.490-189_490-187delinsGAA	NP_001136076.1:n.490-189_490-187delinsGAA
NM_001363695.2:c.727-189_727-187delinsGAA	NP_001350624.1:n.727-189_727-187delinsGAA