Canonical Allele Identifier: CA1164252894

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092523_40092526delinsCAAT , CM000663.2:g.40092523_40092526delinsCAAT	GRCh38
NC_000001.10:g.40558195_40558198delinsCAAT , CM000663.1:g.40558195_40558198delinsCAAT	GRCh37
NC_000001.9:g.40330782_40330785delinsCAAT	NCBI36
NG_009192.1:g.9945_9948delinsATTG , LRG_690:g.9945_9948delinsATTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.129-19_129-16delinsATTG	ENSP00000361865.5:n.129-19_129-16delinsATTG
ENST00000433473.8:c.125-22_125-19delinsATTG	ENSP00000394863.4:n.125-22_125-19delinsATTG
ENST00000439754.6:c.125-19_125-16delinsATTG	ENSP00000403207.2:n.125-19_125-16delinsATTG
ENST00000449045.7:c.125-3014_125-3011delinsATTG	ENSP00000392293.2:n.125-3014_125-3011delinsATTG
ENST00000526547.2:c.405-19_405-16delinsATTG
ENST00000527311.7:c.125-19_125-16delinsATTG	ENSP00000436695.3:n.125-19_125-16delinsATTG
ENST00000530704.6:c.125-19_125-16delinsATTG	ENSP00000431655.1:n.125-19_125-16delinsATTG
ENST00000641083.1:c.103-19_103-16delinsATTG
ENST00000641236.1:n.137-19_137-16delinsATTG
ENST00000641319.1:c.125-19_125-16delinsATTG	ENSP00000493128.1:n.125-19_125-16delinsATTG
ENST00000641471.1:c.212-19_212-16delinsATTG	ENSP00000493146.1:n.212-19_212-16delinsATTG
ENST00000641548.1:c.125-26_125-23delinsATTG	ENSP00000492984.1:n.125-26_125-23delinsATTG
ENST00000641691.1:c.125-26_125-23delinsATTG	ENSP00000492910.1:n.125-26_125-23delinsATTG
ENST00000641924.1:c.124+4589_124+4592delinsATTG	ENSP00000493063.1:n.124+4589_124+4592delinsATTG
ENST00000642050.2:c.125-19_125-16delinsATTG MANE Select	ENSP00000493153.1:n.125-19_125-16delinsATTG
ENST00000372779.8:c.212-19_212-16delinsATTG	ENSP00000361865.4:n.212-19_212-16delinsATTG
ENST00000433473.7:c.125-19_125-16delinsATTG	ENSP00000394863.3:n.125-19_125-16delinsATTG
ENST00000449045.6:c.125-3014_125-3011delinsATTG	ENSP00000392293.2:n.125-3014_125-3011delinsATTG
ENST00000526547.1:c.-26-19_-26-16delinsATTG	ENSP00000436481.1:n.-26-19_-26-16delinsATTG
ENST00000527311.6:c.125-469_125-466delinsATTG	ENSP00000436695.2:n.125-469_125-466delinsATTG
ENST00000529905.5:c.125-19_125-16delinsATTG	ENSP00000432053.1:n.125-19_125-16delinsATTG
ENST00000530704.5:c.125-19_125-16delinsATTG	ENSP00000431655.1:n.125-19_125-16delinsATTG
NM_000310.3:c.125-19_125-16delinsATTG , LRG_690t1:c.125-19_125-16delinsATTG	NP_000301.1:n.125-19_125-16delinsATTG
NM_001142604.1:c.125-3014_125-3011delinsATTG	NP_001136076.1:n.125-3014_125-3011delinsATTG
XM_005271008.1:c.125-19_125-16delinsATTG	XP_005271065.1:n.125-19_125-16delinsATTG
NM_001363695.1:c.125-19_125-16delinsATTG	NP_001350624.1:n.125-19_125-16delinsATTG
NM_000310.4:c.125-19_125-16delinsATTG MANE Select	NP_000301.1:n.125-19_125-16delinsATTG
NM_001142604.2:c.125-3014_125-3011delinsATTG	NP_001136076.1:n.125-3014_125-3011delinsATTG
NM_001363695.2:c.125-19_125-16delinsATTG	NP_001350624.1:n.125-19_125-16delinsATTG