Canonical Allele Identifier: CA1164243672

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074343_40074346delinsCTTT , CM000663.2:g.40074343_40074346delinsCTTT	GRCh38
NC_000001.10:g.40540015_40540018delinsCTTT , CM000663.1:g.40540015_40540018delinsCTTT	GRCh37
NC_000001.9:g.40312602_40312605delinsCTTT	NCBI36
NG_009192.1:g.28125_28128delinsAAAG , LRG_690:g.28125_28128delinsAAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.796-163_796-160delinsAAAG	ENSP00000394863.4:n.796-163_796-160delinsAAAG
ENST00000439754.6:c.727-163_727-160delinsAAAG	ENSP00000403207.2:n.727-163_727-160delinsAAAG
ENST00000449045.7:c.490-163_490-160delinsAAAG	ENSP00000392293.2:n.490-163_490-160delinsAAAG
ENST00000527311.7:c.568-163_568-160delinsAAAG	ENSP00000436695.3:n.568-163_568-160delinsAAAG
ENST00000530076.6:c.142-163_142-160delinsAAAG	ENSP00000434007.1:n.142-163_142-160delinsAAAG
ENST00000530704.6:c.*422-163_*422-160delinsAAAG	ENSP00000431655.1:n.*422-163_*422-160delinsAAAG
ENST00000641083.1:c.889-163_889-160delinsAAAG
ENST00000641236.1:n.1036-163_1036-160delinsAAAG
ENST00000641319.1:c.*9-163_*9-160delinsAAAG	ENSP00000493128.1:n.*9-163_*9-160delinsAAAG
ENST00000641381.1:c.221-163_221-160delinsAAAG
ENST00000641471.1:c.886-163_886-160delinsAAAG	ENSP00000493146.1:n.886-163_886-160delinsAAAG
ENST00000641691.1:c.*651-163_*651-160delinsAAAG	ENSP00000492910.1:n.*651-163_*651-160delinsAAAG
ENST00000641924.1:c.*228-163_*228-160delinsAAAG	ENSP00000493063.1:n.*228-163_*228-160delinsAAAG
ENST00000642050.2:c.799-163_799-160delinsAAAG MANE Select	ENSP00000493153.1:n.799-163_799-160delinsAAAG
ENST00000372775.2:n.196-163_196-160delinsAAAG
ENST00000433473.7:c.799-163_799-160delinsAAAG	ENSP00000394863.3:n.799-163_799-160delinsAAAG
ENST00000439754.5:c.412-163_412-160delinsAAAG	ENSP00000403207.1:n.412-163_412-160delinsAAAG
ENST00000449045.6:c.490-163_490-160delinsAAAG	ENSP00000392293.2:n.490-163_490-160delinsAAAG
ENST00000527311.6:c.574-163_574-160delinsAAAG	ENSP00000436695.2:n.574-163_574-160delinsAAAG
ENST00000529905.5:c.799-163_799-160delinsAAAG	ENSP00000432053.1:n.799-163_799-160delinsAAAG
ENST00000530076.5:c.142-163_142-160delinsAAAG	ENSP00000434007.1:n.142-163_142-160delinsAAAG
ENST00000530704.5:c.*422-163_*422-160delinsAAAG	ENSP00000431655.1:n.*422-163_*422-160delinsAAAG
NM_000310.3:c.799-163_799-160delinsAAAG , LRG_690t1:c.799-163_799-160delinsAAAG	NP_000301.1:n.799-163_799-160delinsAAAG
NM_001142604.1:c.490-163_490-160delinsAAAG	NP_001136076.1:n.490-163_490-160delinsAAAG
XM_005271008.1:c.727-163_727-160delinsAAAG	XP_005271065.1:n.727-163_727-160delinsAAAG
NM_001363695.1:c.727-163_727-160delinsAAAG	NP_001350624.1:n.727-163_727-160delinsAAAG
NM_000310.4:c.799-163_799-160delinsAAAG MANE Select	NP_000301.1:n.799-163_799-160delinsAAAG
NM_001142604.2:c.490-163_490-160delinsAAAG	NP_001136076.1:n.490-163_490-160delinsAAAG
NM_001363695.2:c.727-163_727-160delinsAAAG	NP_001350624.1:n.727-163_727-160delinsAAAG