Canonical Allele Identifier: CA2645092839

Gene: PPT1

Linked Data

• gnomAD v4: 1-40092510-A-ATCCCATGCCAGATCACCAACGGCAGCGGCGCCGGCGGGTCCAGATGCTGCAGCGCCCGAGAAGC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092510_40092511insTCCCATGCCAGATCACCAACGGCAGCGGCGCCGGCGGGTCCAGATGCTGCAGCGCCCGAGAAGC , CM000663.2:g.40092510_40092511insTCCCATGCCAGATCACCAACGGCAGCGGCGCCGGCGGGTCCAGATGCTGCAGCGCCCGAGAAGC	GRCh38
NC_000001.10:g.40558182_40558183insTCCCATGCCAGATCACCAACGGCAGCGGCGCCGGCGGGTCCAGATGCTGCAGCGCCCGAGAAGC , CM000663.1:g.40558182_40558183insTCCCATGCCAGATCACCAACGGCAGCGGCGCCGGCGGGTCCAGATGCTGCAGCGCCCGAGAAGC	GRCh37
NC_000001.9:g.40330769_40330770insTCCCATGCCAGATCACCAACGGCAGCGGCGCCGGCGGGTCCAGATGCTGCAGCGCCCGAGAAGC	NCBI36
NG_009192.1:g.9960_9961insGCTTCTCGGGCGCTGCAGCATCTGGACCCGCCGGCGCCGCTGCCGTTGGTGATCTGGCATGGGA , LRG_690:g.9960_9961insGCTTCTCGGGCGCTGCAGCATCTGGACCCGCCGGCGCCGCTGCCGTTGGTGATCTGGCATGGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.129-4_129-3insGCTTCTCGGGCGCTGCAGCATCTGGACCCGCCGGCGCCGCTGCCGTTGGTGATCTGGCATGGGA	ENSP00000361865.5:n.129-4_129-3insGCTTCTCGGGCGCTGCAGCATCTGGAC...
ENST00000433473.8:c.125-7_125-6insGCTTCTCGGGCGCTGCAGCATCTGGACCCGCCGGCGCCGCTGCCGTTGGTGATCTGGCATGGGA	ENSP00000394863.4:n.125-7_125-6insGCTTCTCGGGCGCTGCAGCATCTGGAC...
ENST00000439754.6:c.125-4_125-3insGCTTCTCGGGCGCTGCAGCATCTGGACCCGCCGGCGCCGCTGCCGTTGGTGATCTGGCATGGGA	ENSP00000403207.2:n.125-4_125-3insGCTTCTCGGGCGCTGCAGCATCTGGAC...
ENST00000449045.7:c.125-2999_125-2998insGCTTCTCGGGCGCTGCAGCATCTGGACCCGCCGGCGCCGCTGCCGTTGGTGATCTGGCATGGGA	ENSP00000392293.2:n.125-2999_125-2998insGCTTCTCGGGCGCTGCAGCAT...
ENST00000526547.2:c.405-4_405-3insGCTTCTCGGGCGCTGCAGCATCTGGACCCGCCGGCGCCGCTGCCGTTGGTGATCTGGCATGGGA
ENST00000527311.7:c.125-4_125-3insGCTTCTCGGGCGCTGCAGCATCTGGACCCGCCGGCGCCGCTGCCGTTGGTGATCTGGCATGGGA	ENSP00000436695.3:n.125-4_125-3insGCTTCTCGGGCGCTGCAGCATCTGGAC...
ENST00000530704.6:c.125-4_125-3insGCTTCTCGGGCGCTGCAGCATCTGGACCCGCCGGCGCCGCTGCCGTTGGTGATCTGGCATGGGA	ENSP00000431655.1:n.125-4_125-3insGCTTCTCGGGCGCTGCAGCATCTGGAC...
ENST00000641083.1:c.103-4_103-3insGCTTCTCGGGCGCTGCAGCATCTGGACCCGCCGGCGCCGCTGCCGTTGGTGATCTGGCATGGGA
ENST00000641236.1:n.137-4_137-3insGCTTCTCGGGCGCTGCAGCATCTGGACCCGCCGGCGCCGCTGCCGTTGGTGATCTGGCATGGGA
ENST00000641319.1:c.125-4_125-3insGCTTCTCGGGCGCTGCAGCATCTGGACCCGCCGGCGCCGCTGCCGTTGGTGATCTGGCATGGGA	ENSP00000493128.1:n.125-4_125-3insGCTTCTCGGGCGCTGCAGCATCTGGAC...
ENST00000641471.1:c.212-4_212-3insGCTTCTCGGGCGCTGCAGCATCTGGACCCGCCGGCGCCGCTGCCGTTGGTGATCTGGCATGGGA	ENSP00000493146.1:n.212-4_212-3insGCTTCTCGGGCGCTGCAGCATCTGGAC...
ENST00000641548.1:c.125-11_125-10insGCTTCTCGGGCGCTGCAGCATCTGGACCCGCCGGCGCCGCTGCCGTTGGTGATCTGGCATGGGA	ENSP00000492984.1:n.125-11_125-10insGCTTCTCGGGCGCTGCAGCATCTGG...
ENST00000641691.1:c.125-11_125-10insGCTTCTCGGGCGCTGCAGCATCTGGACCCGCCGGCGCCGCTGCCGTTGGTGATCTGGCATGGGA	ENSP00000492910.1:n.125-11_125-10insGCTTCTCGGGCGCTGCAGCATCTGG...
ENST00000641924.1:c.124+4604_124+4605insGCTTCTCGGGCGCTGCAGCATCTGGACCCGCCGGCGCCGCTGCCGTTGGTGATCTGGCATGGGA	ENSP00000493063.1:n.124+4604_124+4605insGCTTCTCGGGCGCTGCAGCAT...
ENST00000642050.2:c.125-4_125-3insGCTTCTCGGGCGCTGCAGCATCTGGACCCGCCGGCGCCGCTGCCGTTGGTGATCTGGCATGGGA MANE Select	ENSP00000493153.1:n.125-4_125-3insGCTTCTCGGGCGCTGCAGCATCTGGAC...
ENST00000372779.8:c.212-4_212-3insGCTTCTCGGGCGCTGCAGCATCTGGACCCGCCGGCGCCGCTGCCGTTGGTGATCTGGCATGGGA	ENSP00000361865.4:n.212-4_212-3insGCTTCTCGGGCGCTGCAGCATCTGGAC...
ENST00000433473.7:c.125-4_125-3insGCTTCTCGGGCGCTGCAGCATCTGGACCCGCCGGCGCCGCTGCCGTTGGTGATCTGGCATGGGA	ENSP00000394863.3:n.125-4_125-3insGCTTCTCGGGCGCTGCAGCATCTGGAC...
ENST00000449045.6:c.125-2999_125-2998insGCTTCTCGGGCGCTGCAGCATCTGGACCCGCCGGCGCCGCTGCCGTTGGTGATCTGGCATGGGA	ENSP00000392293.2:n.125-2999_125-2998insGCTTCTCGGGCGCTGCAGCAT...
ENST00000526547.1:c.-26-4_-26-3insGCTTCTCGGGCGCTGCAGCATCTGGACCCGCCGGCGCCGCTGCCGTTGGTGATCTGGCATGGGA	ENSP00000436481.1:n.-26-4_-26-3insGCTTCTCGGGCGCTGCAGCATCTGGAC...
ENST00000527311.6:c.125-454_125-453insGCTTCTCGGGCGCTGCAGCATCTGGACCCGCCGGCGCCGCTGCCGTTGGTGATCTGGCATGGGA	ENSP00000436695.2:n.125-454_125-453insGCTTCTCGGGCGCTGCAGCATCT...
ENST00000529905.5:c.125-4_125-3insGCTTCTCGGGCGCTGCAGCATCTGGACCCGCCGGCGCCGCTGCCGTTGGTGATCTGGCATGGGA	ENSP00000432053.1:n.125-4_125-3insGCTTCTCGGGCGCTGCAGCATCTGGAC...
ENST00000530704.5:c.125-4_125-3insGCTTCTCGGGCGCTGCAGCATCTGGACCCGCCGGCGCCGCTGCCGTTGGTGATCTGGCATGGGA	ENSP00000431655.1:n.125-4_125-3insGCTTCTCGGGCGCTGCAGCATCTGGAC...
NM_000310.3:c.125-4_125-3insGCTTCTCGGGCGCTGCAGCATCTGGACCCGCCGGCGCCGCTGCCGTTGGTGATCTGGCATGGGA , LRG_690t1:c.125-4_125-3insGCTTCTCGGGCGCTGCAGCATCTGGACCCGCCGGCGCCGCTGCCGTTGGTGATCTGGCATGGGA	NP_000301.1:n.125-4_125-3insGCTTCTCGGGCGCTGCAGCATCTGGACCCGCCG...
NM_001142604.1:c.125-2999_125-2998insGCTTCTCGGGCGCTGCAGCATCTGGACCCGCCGGCGCCGCTGCCGTTGGTGATCTGGCATGGGA	NP_001136076.1:n.125-2999_125-2998insGCTTCTCGGGCGCTGCAGCATCTG...
XM_005271008.1:c.125-4_125-3insGCTTCTCGGGCGCTGCAGCATCTGGACCCGCCGGCGCCGCTGCCGTTGGTGATCTGGCATGGGA	XP_005271065.1:n.125-4_125-3insGCTTCTCGGGCGCTGCAGCATCTGGACCCG...
NM_001363695.1:c.125-4_125-3insGCTTCTCGGGCGCTGCAGCATCTGGACCCGCCGGCGCCGCTGCCGTTGGTGATCTGGCATGGGA	NP_001350624.1:n.125-4_125-3insGCTTCTCGGGCGCTGCAGCATCTGGACCCG...
NM_000310.4:c.125-4_125-3insGCTTCTCGGGCGCTGCAGCATCTGGACCCGCCGGCGCCGCTGCCGTTGGTGATCTGGCATGGGA MANE Select	NP_000301.1:n.125-4_125-3insGCTTCTCGGGCGCTGCAGCATCTGGACCCGCCG...
NM_001142604.2:c.125-2999_125-2998insGCTTCTCGGGCGCTGCAGCATCTGGACCCGCCGGCGCCGCTGCCGTTGGTGATCTGGCATGGGA	NP_001136076.1:n.125-2999_125-2998insGCTTCTCGGGCGCTGCAGCATCTG...
NM_001363695.2:c.125-4_125-3insGCTTCTCGGGCGCTGCAGCATCTGGACCCGCCGGCGCCGCTGCCGTTGGTGATCTGGCATGGGA	NP_001350624.1:n.125-4_125-3insGCTTCTCGGGCGCTGCAGCATCTGGACCCG...