Canonical Allele Identifier: CA2645092794

Gene: PPT1

Linked Data

• gnomAD v4: 1-40092282-G-GTCCCTGCATTAGTCTTACTAGGCCCAATAACTTCTGTACCTGCCCCTCCCTTCCAAACTAAACTCCTAACTTCTTCCCCTTGCTTACTCATTTCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092282_40092283insTCCCTGCATTAGTCTTACTAGGCCCAATAACTTCTGTACCTGCCCCTCCCTTCCAAACTAAACTCCTAACTTCTTCCCCTTGCTTACTCATTTCCA , CM000663.2:g.40092282_40092283insTCCCTGCATTAGTCTTACTAGGCCCAATAACTTCTGTACCTGCCCCTCCCTTCCAAACTAAACTCCTAACTTCTTCCCCTTGCTTACTCATTTCCA	GRCh38
NC_000001.10:g.40557954_40557955insTCCCTGCATTAGTCTTACTAGGCCCAATAACTTCTGTACCTGCCCCTCCCTTCCAAACTAAACTCCTAACTTCTTCCCCTTGCTTACTCATTTCCA , CM000663.1:g.40557954_40557955insTCCCTGCATTAGTCTTACTAGGCCCAATAACTTCTGTACCTGCCCCTCCCTTCCAAACTAAACTCCTAACTTCTTCCCCTTGCTTACTCATTTCCA	GRCh37
NC_000001.9:g.40330541_40330542insTCCCTGCATTAGTCTTACTAGGCCCAATAACTTCTGTACCTGCCCCTCCCTTCCAAACTAAACTCCTAACTTCTTCCCCTTGCTTACTCATTTCCA	NCBI36
NG_009192.1:g.10188_10189insTGGAAATGAGTAAGCAAGGGGAAGAAGTTAGGAGTTTAGTTTGGAAGGGAGGGGCAGGTACAGAAGTTATTGGGCCTAGTAAGACTAATGCAGGGA , LRG_690:g.10188_10189insTGGAAATGAGTAAGCAAGGGGAAGAAGTTAGGAGTTTAGTTTGGAAGGGAGGGGCAGGTACAGAAGTTATTGGGCCTAGTAAGACTAATGCAGGGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000372779.9:c.*71-111_*71-110insTGGAAATGAGTAAGCAAGGGGAAGAAGTTAGGAGTTTAGTTTGGAAGGGAGGGGCAGGTACAGAAGTTATTGGGCCTAGTAAGACTAATGCAGGGA	ENSP00000361865.5:n.*71-111_*71-110insTGGAAATGAGTAAGCAAGGGGAA...
ENST00000433473.8:c.232-111_232-110insTGGAAATGAGTAAGCAAGGGGAAGAAGTTAGGAGTTTAGTTTGGAAGGGAGGGGCAGGTACAGAAGTTATTGGGCCTAGTAAGACTAATGCAGGGA	ENSP00000394863.4:n.232-111_232-110insTGGAAATGAGTAAGCAAGGGGAA...
ENST00000439754.6:c.235-111_235-110insTGGAAATGAGTAAGCAAGGGGAAGAAGTTAGGAGTTTAGTTTGGAAGGGAGGGGCAGGTACAGAAGTTATTGGGCCTAGTAAGACTAATGCAGGGA	ENSP00000403207.2:n.235-111_235-110insTGGAAATGAGTAAGCAAGGGGAA...
ENST00000449045.7:c.125-2771_125-2770insTGGAAATGAGTAAGCAAGGGGAAGAAGTTAGGAGTTTAGTTTGGAAGGGAGGGGCAGGTACAGAAGTTATTGGGCCTAGTAAGACTAATGCAGGGA	ENSP00000392293.2:n.125-2771_125-2770insTGGAAATGAGTAAGCAAGGGG...
ENST00000526547.2:c.515-111_515-110insTGGAAATGAGTAAGCAAGGGGAAGAAGTTAGGAGTTTAGTTTGGAAGGGAGGGGCAGGTACAGAAGTTATTGGGCCTAGTAAGACTAATGCAGGGA
ENST00000527311.7:c.234+115_234+116insTGGAAATGAGTAAGCAAGGGGAAGAAGTTAGGAGTTTAGTTTGGAAGGGAGGGGCAGGTACAGAAGTTATTGGGCCTAGTAAGACTAATGCAGGGA	ENSP00000436695.3:n.234+115_234+116insTGGAAATGAGTAAGCAAGGGGAA...
ENST00000530704.6:c.235-111_235-110insTGGAAATGAGTAAGCAAGGGGAAGAAGTTAGGAGTTTAGTTTGGAAGGGAGGGGCAGGTACAGAAGTTATTGGGCCTAGTAAGACTAATGCAGGGA	ENSP00000431655.1:n.235-111_235-110insTGGAAATGAGTAAGCAAGGGGAA...
ENST00000641083.1:c.213-111_213-110insTGGAAATGAGTAAGCAAGGGGAAGAAGTTAGGAGTTTAGTTTGGAAGGGAGGGGCAGGTACAGAAGTTATTGGGCCTAGTAAGACTAATGCAGGGA
ENST00000641236.1:n.361_362insTGGAAATGAGTAAGCAAGGGGAAGAAGTTAGGAGTTTAGTTTGGAAGGGAGGGGCAGGTACAGAAGTTATTGGGCCTAGTAAGACTAATGCAGGGA
ENST00000641319.1:c.235-111_235-110insTGGAAATGAGTAAGCAAGGGGAAGAAGTTAGGAGTTTAGTTTGGAAGGGAGGGGCAGGTACAGAAGTTATTGGGCCTAGTAAGACTAATGCAGGGA	ENSP00000493128.1:n.235-111_235-110insTGGAAATGAGTAAGCAAGGGGAA...
ENST00000641471.1:c.322-111_322-110insTGGAAATGAGTAAGCAAGGGGAAGAAGTTAGGAGTTTAGTTTGGAAGGGAGGGGCAGGTACAGAAGTTATTGGGCCTAGTAAGACTAATGCAGGGA	ENSP00000493146.1:n.322-111_322-110insTGGAAATGAGTAAGCAAGGGGAA...
ENST00000641548.1:c.*87-111_*87-110insTGGAAATGAGTAAGCAAGGGGAAGAAGTTAGGAGTTTAGTTTGGAAGGGAGGGGCAGGTACAGAAGTTATTGGGCCTAGTAAGACTAATGCAGGGA	ENSP00000492984.1:n.*87-111_*87-110insTGGAAATGAGTAAGCAAGGGGAA...
ENST00000641691.1:c.*87-111_*87-110insTGGAAATGAGTAAGCAAGGGGAAGAAGTTAGGAGTTTAGTTTGGAAGGGAGGGGCAGGTACAGAAGTTATTGGGCCTAGTAAGACTAATGCAGGGA	ENSP00000492910.1:n.*87-111_*87-110insTGGAAATGAGTAAGCAAGGGGAA...
ENST00000641924.1:c.124+4832_124+4833insTGGAAATGAGTAAGCAAGGGGAAGAAGTTAGGAGTTTAGTTTGGAAGGGAGGGGCAGGTACAGAAGTTATTGGGCCTAGTAAGACTAATGCAGGGA	ENSP00000493063.1:n.124+4832_124+4833insTGGAAATGAGTAAGCAAGGGG...
ENST00000642050.2:c.235-111_235-110insTGGAAATGAGTAAGCAAGGGGAAGAAGTTAGGAGTTTAGTTTGGAAGGGAGGGGCAGGTACAGAAGTTATTGGGCCTAGTAAGACTAATGCAGGGA MANE Select	ENSP00000493153.1:n.235-111_235-110insTGGAAATGAGTAAGCAAGGGGAA...
ENST00000372779.8:c.322-111_322-110insTGGAAATGAGTAAGCAAGGGGAAGAAGTTAGGAGTTTAGTTTGGAAGGGAGGGGCAGGTACAGAAGTTATTGGGCCTAGTAAGACTAATGCAGGGA	ENSP00000361865.4:n.322-111_322-110insTGGAAATGAGTAAGCAAGGGGAA...
ENST00000433473.7:c.235-111_235-110insTGGAAATGAGTAAGCAAGGGGAAGAAGTTAGGAGTTTAGTTTGGAAGGGAGGGGCAGGTACAGAAGTTATTGGGCCTAGTAAGACTAATGCAGGGA	ENSP00000394863.3:n.235-111_235-110insTGGAAATGAGTAAGCAAGGGGAA...
ENST00000449045.6:c.125-2771_125-2770insTGGAAATGAGTAAGCAAGGGGAAGAAGTTAGGAGTTTAGTTTGGAAGGGAGGGGCAGGTACAGAAGTTATTGGGCCTAGTAAGACTAATGCAGGGA	ENSP00000392293.2:n.125-2771_125-2770insTGGAAATGAGTAAGCAAGGGG...
ENST00000526547.1:c.85-111_85-110insTGGAAATGAGTAAGCAAGGGGAAGAAGTTAGGAGTTTAGTTTGGAAGGGAGGGGCAGGTACAGAAGTTATTGGGCCTAGTAAGACTAATGCAGGGA	ENSP00000436481.1:n.85-111_85-110insTGGAAATGAGTAAGCAAGGGGAAGA...
ENST00000527311.6:c.125-226_125-225insTGGAAATGAGTAAGCAAGGGGAAGAAGTTAGGAGTTTAGTTTGGAAGGGAGGGGCAGGTACAGAAGTTATTGGGCCTAGTAAGACTAATGCAGGGA	ENSP00000436695.2:n.125-226_125-225insTGGAAATGAGTAAGCAAGGGGAA...
ENST00000529905.5:c.235-111_235-110insTGGAAATGAGTAAGCAAGGGGAAGAAGTTAGGAGTTTAGTTTGGAAGGGAGGGGCAGGTACAGAAGTTATTGGGCCTAGTAAGACTAATGCAGGGA	ENSP00000432053.1:n.235-111_235-110insTGGAAATGAGTAAGCAAGGGGAA...
ENST00000530704.5:c.235-111_235-110insTGGAAATGAGTAAGCAAGGGGAAGAAGTTAGGAGTTTAGTTTGGAAGGGAGGGGCAGGTACAGAAGTTATTGGGCCTAGTAAGACTAATGCAGGGA	ENSP00000431655.1:n.235-111_235-110insTGGAAATGAGTAAGCAAGGGGAA...
NM_000310.3:c.235-111_235-110insTGGAAATGAGTAAGCAAGGGGAAGAAGTTAGGAGTTTAGTTTGGAAGGGAGGGGCAGGTACAGAAGTTATTGGGCCTAGTAAGACTAATGCAGGGA , LRG_690t1:c.235-111_235-110insTGGAAATGAGTAAGCAAGGGGAAGAAGTTAGGAGTTTAGTTTGGAAGGGAGGGGCAGGTACAGAAGTTATTGGGCCTAGTAAGACTAATGCAGGGA	NP_000301.1:n.235-111_235-110insTGGAAATGAGTAAGCAAGGGGAAGAAGTT...
NM_001142604.1:c.125-2771_125-2770insTGGAAATGAGTAAGCAAGGGGAAGAAGTTAGGAGTTTAGTTTGGAAGGGAGGGGCAGGTACAGAAGTTATTGGGCCTAGTAAGACTAATGCAGGGA	NP_001136076.1:n.125-2771_125-2770insTGGAAATGAGTAAGCAAGGGGAAG...
XM_005271008.1:c.235-111_235-110insTGGAAATGAGTAAGCAAGGGGAAGAAGTTAGGAGTTTAGTTTGGAAGGGAGGGGCAGGTACAGAAGTTATTGGGCCTAGTAAGACTAATGCAGGGA	XP_005271065.1:n.235-111_235-110insTGGAAATGAGTAAGCAAGGGGAAGAA...
NM_001363695.1:c.235-111_235-110insTGGAAATGAGTAAGCAAGGGGAAGAAGTTAGGAGTTTAGTTTGGAAGGGAGGGGCAGGTACAGAAGTTATTGGGCCTAGTAAGACTAATGCAGGGA	NP_001350624.1:n.235-111_235-110insTGGAAATGAGTAAGCAAGGGGAAGAA...
NM_000310.4:c.235-111_235-110insTGGAAATGAGTAAGCAAGGGGAAGAAGTTAGGAGTTTAGTTTGGAAGGGAGGGGCAGGTACAGAAGTTATTGGGCCTAGTAAGACTAATGCAGGGA MANE Select	NP_000301.1:n.235-111_235-110insTGGAAATGAGTAAGCAAGGGGAAGAAGTT...
NM_001142604.2:c.125-2771_125-2770insTGGAAATGAGTAAGCAAGGGGAAGAAGTTAGGAGTTTAGTTTGGAAGGGAGGGGCAGGTACAGAAGTTATTGGGCCTAGTAAGACTAATGCAGGGA	NP_001136076.1:n.125-2771_125-2770insTGGAAATGAGTAAGCAAGGGGAAG...
NM_001363695.2:c.235-111_235-110insTGGAAATGAGTAAGCAAGGGGAAGAAGTTAGGAGTTTAGTTTGGAAGGGAGGGGCAGGTACAGAAGTTATTGGGCCTAGTAAGACTAATGCAGGGA	NP_001350624.1:n.235-111_235-110insTGGAAATGAGTAAGCAAGGGGAAGAA...