Canonical Allele Identifier: CA1164243695

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074364_40074368delinsTTTTC , CM000663.2:g.40074364_40074368delinsTTTTC	GRCh38
NC_000001.10:g.40540036_40540040delinsTTTTC , CM000663.1:g.40540036_40540040delinsTTTTC	GRCh37
NC_000001.9:g.40312623_40312627delinsTTTTC	NCBI36
NG_009192.1:g.28103_28107delinsGAAAA , LRG_690:g.28103_28107delinsGAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.796-185_796-181delinsGAAAA	ENSP00000394863.4:n.796-185_796-181delinsGAAAA
ENST00000439754.6:c.727-185_727-181delinsGAAAA	ENSP00000403207.2:n.727-185_727-181delinsGAAAA
ENST00000449045.7:c.490-185_490-181delinsGAAAA	ENSP00000392293.2:n.490-185_490-181delinsGAAAA
ENST00000527311.7:c.568-185_568-181delinsGAAAA	ENSP00000436695.3:n.568-185_568-181delinsGAAAA
ENST00000530076.6:c.142-185_142-181delinsGAAAA	ENSP00000434007.1:n.142-185_142-181delinsGAAAA
ENST00000530704.6:c.*422-185_*422-181delinsGAAAA	ENSP00000431655.1:n.*422-185_*422-181delinsGAAAA
ENST00000641083.1:c.889-185_889-181delinsGAAAA
ENST00000641236.1:n.1036-185_1036-181delinsGAAAA
ENST00000641319.1:c.*9-185_*9-181delinsGAAAA	ENSP00000493128.1:n.*9-185_*9-181delinsGAAAA
ENST00000641381.1:c.221-185_221-181delinsGAAAA
ENST00000641471.1:c.886-185_886-181delinsGAAAA	ENSP00000493146.1:n.886-185_886-181delinsGAAAA
ENST00000641691.1:c.*651-185_*651-181delinsGAAAA	ENSP00000492910.1:n.*651-185_*651-181delinsGAAAA
ENST00000641924.1:c.*228-185_*228-181delinsGAAAA	ENSP00000493063.1:n.*228-185_*228-181delinsGAAAA
ENST00000642050.2:c.799-185_799-181delinsGAAAA MANE Select	ENSP00000493153.1:n.799-185_799-181delinsGAAAA
ENST00000372775.2:n.196-185_196-181delinsGAAAA
ENST00000433473.7:c.799-185_799-181delinsGAAAA	ENSP00000394863.3:n.799-185_799-181delinsGAAAA
ENST00000439754.5:c.412-185_412-181delinsGAAAA	ENSP00000403207.1:n.412-185_412-181delinsGAAAA
ENST00000449045.6:c.490-185_490-181delinsGAAAA	ENSP00000392293.2:n.490-185_490-181delinsGAAAA
ENST00000527311.6:c.574-185_574-181delinsGAAAA	ENSP00000436695.2:n.574-185_574-181delinsGAAAA
ENST00000529905.5:c.799-185_799-181delinsGAAAA	ENSP00000432053.1:n.799-185_799-181delinsGAAAA
ENST00000530076.5:c.142-185_142-181delinsGAAAA	ENSP00000434007.1:n.142-185_142-181delinsGAAAA
ENST00000530704.5:c.*422-185_*422-181delinsGAAAA	ENSP00000431655.1:n.*422-185_*422-181delinsGAAAA
NM_000310.3:c.799-185_799-181delinsGAAAA , LRG_690t1:c.799-185_799-181delinsGAAAA	NP_000301.1:n.799-185_799-181delinsGAAAA
NM_001142604.1:c.490-185_490-181delinsGAAAA	NP_001136076.1:n.490-185_490-181delinsGAAAA
XM_005271008.1:c.727-185_727-181delinsGAAAA	XP_005271065.1:n.727-185_727-181delinsGAAAA
NM_001363695.1:c.727-185_727-181delinsGAAAA	NP_001350624.1:n.727-185_727-181delinsGAAAA
NM_000310.4:c.799-185_799-181delinsGAAAA MANE Select	NP_000301.1:n.799-185_799-181delinsGAAAA
NM_001142604.2:c.490-185_490-181delinsGAAAA	NP_001136076.1:n.490-185_490-181delinsGAAAA
NM_001363695.2:c.727-185_727-181delinsGAAAA	NP_001350624.1:n.727-185_727-181delinsGAAAA