Canonical Allele Identifier: CA1164243691

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074362_40074365delinsCTTT , CM000663.2:g.40074362_40074365delinsCTTT	GRCh38
NC_000001.10:g.40540034_40540037delinsCTTT , CM000663.1:g.40540034_40540037delinsCTTT	GRCh37
NC_000001.9:g.40312621_40312624delinsCTTT	NCBI36
NG_009192.1:g.28106_28109delinsAAAG , LRG_690:g.28106_28109delinsAAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.796-182_796-179delinsAAAG	ENSP00000394863.4:n.796-182_796-179delinsAAAG
ENST00000439754.6:c.727-182_727-179delinsAAAG	ENSP00000403207.2:n.727-182_727-179delinsAAAG
ENST00000449045.7:c.490-182_490-179delinsAAAG	ENSP00000392293.2:n.490-182_490-179delinsAAAG
ENST00000527311.7:c.568-182_568-179delinsAAAG	ENSP00000436695.3:n.568-182_568-179delinsAAAG
ENST00000530076.6:c.142-182_142-179delinsAAAG	ENSP00000434007.1:n.142-182_142-179delinsAAAG
ENST00000530704.6:c.*422-182_*422-179delinsAAAG	ENSP00000431655.1:n.*422-182_*422-179delinsAAAG
ENST00000641083.1:c.889-182_889-179delinsAAAG
ENST00000641236.1:n.1036-182_1036-179delinsAAAG
ENST00000641319.1:c.*9-182_*9-179delinsAAAG	ENSP00000493128.1:n.*9-182_*9-179delinsAAAG
ENST00000641381.1:c.221-182_221-179delinsAAAG
ENST00000641471.1:c.886-182_886-179delinsAAAG	ENSP00000493146.1:n.886-182_886-179delinsAAAG
ENST00000641691.1:c.*651-182_*651-179delinsAAAG	ENSP00000492910.1:n.*651-182_*651-179delinsAAAG
ENST00000641924.1:c.*228-182_*228-179delinsAAAG	ENSP00000493063.1:n.*228-182_*228-179delinsAAAG
ENST00000642050.2:c.799-182_799-179delinsAAAG MANE Select	ENSP00000493153.1:n.799-182_799-179delinsAAAG
ENST00000372775.2:n.196-182_196-179delinsAAAG
ENST00000433473.7:c.799-182_799-179delinsAAAG	ENSP00000394863.3:n.799-182_799-179delinsAAAG
ENST00000439754.5:c.412-182_412-179delinsAAAG	ENSP00000403207.1:n.412-182_412-179delinsAAAG
ENST00000449045.6:c.490-182_490-179delinsAAAG	ENSP00000392293.2:n.490-182_490-179delinsAAAG
ENST00000527311.6:c.574-182_574-179delinsAAAG	ENSP00000436695.2:n.574-182_574-179delinsAAAG
ENST00000529905.5:c.799-182_799-179delinsAAAG	ENSP00000432053.1:n.799-182_799-179delinsAAAG
ENST00000530076.5:c.142-182_142-179delinsAAAG	ENSP00000434007.1:n.142-182_142-179delinsAAAG
ENST00000530704.5:c.*422-182_*422-179delinsAAAG	ENSP00000431655.1:n.*422-182_*422-179delinsAAAG
NM_000310.3:c.799-182_799-179delinsAAAG , LRG_690t1:c.799-182_799-179delinsAAAG	NP_000301.1:n.799-182_799-179delinsAAAG
NM_001142604.1:c.490-182_490-179delinsAAAG	NP_001136076.1:n.490-182_490-179delinsAAAG
XM_005271008.1:c.727-182_727-179delinsAAAG	XP_005271065.1:n.727-182_727-179delinsAAAG
NM_001363695.1:c.727-182_727-179delinsAAAG	NP_001350624.1:n.727-182_727-179delinsAAAG
NM_000310.4:c.799-182_799-179delinsAAAG MANE Select	NP_000301.1:n.799-182_799-179delinsAAAG
NM_001142604.2:c.490-182_490-179delinsAAAG	NP_001136076.1:n.490-182_490-179delinsAAAG
NM_001363695.2:c.727-182_727-179delinsAAAG	NP_001350624.1:n.727-182_727-179delinsAAAG