Canonical Allele Identifier: CA2695696143

Gene: PPT1

Linked Data

• dbSNP Id: rs2124488532

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092516_40092517insGGCAGCGGCGCCGGCGGGTCC , CM000663.2:g.40092516_40092517insGGCAGCGGCGCCGGCGGGTCC	GRCh38
NC_000001.10:g.40558188_40558189insGGCAGCGGCGCCGGCGGGTCC , CM000663.1:g.40558188_40558189insGGCAGCGGCGCCGGCGGGTCC	GRCh37
NC_000001.9:g.40330775_40330776insGGCAGCGGCGCCGGCGGGTCC	NCBI36
NG_009192.1:g.9955_9956insGACCCGCCGGCGCCGCTGCCG , LRG_690:g.9955_9956insGACCCGCCGGCGCCGCTGCCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.129-9_129-8insGACCCGCCGGCGCCGCTGCCG	ENSP00000361865.5:n.129-9_129-8insGACCCGCCGGCGCCGCTGCCG
ENST00000433473.8:c.125-12_125-11insGACCCGCCGGCGCCGCTGCCG	ENSP00000394863.4:n.125-12_125-11insGACCCGCCGGCGCCGCTGCCG
ENST00000439754.6:c.125-9_125-8insGACCCGCCGGCGCCGCTGCCG	ENSP00000403207.2:n.125-9_125-8insGACCCGCCGGCGCCGCTGCCG
ENST00000449045.7:c.125-3004_125-3003insGACCCGCCGGCGCCGCTGCCG	ENSP00000392293.2:n.125-3004_125-3003insGACCCGCCGGCGCCGCTGCCG...
ENST00000526547.2:c.405-9_405-8insGACCCGCCGGCGCCGCTGCCG
ENST00000527311.7:c.125-9_125-8insGACCCGCCGGCGCCGCTGCCG	ENSP00000436695.3:n.125-9_125-8insGACCCGCCGGCGCCGCTGCCG
ENST00000530704.6:c.125-9_125-8insGACCCGCCGGCGCCGCTGCCG	ENSP00000431655.1:n.125-9_125-8insGACCCGCCGGCGCCGCTGCCG
ENST00000641083.1:c.103-9_103-8insGACCCGCCGGCGCCGCTGCCG
ENST00000641236.1:n.137-9_137-8insGACCCGCCGGCGCCGCTGCCG
ENST00000641319.1:c.125-9_125-8insGACCCGCCGGCGCCGCTGCCG	ENSP00000493128.1:n.125-9_125-8insGACCCGCCGGCGCCGCTGCCG
ENST00000641471.1:c.212-9_212-8insGACCCGCCGGCGCCGCTGCCG	ENSP00000493146.1:n.212-9_212-8insGACCCGCCGGCGCCGCTGCCG
ENST00000641548.1:c.125-16_125-15insGACCCGCCGGCGCCGCTGCCG	ENSP00000492984.1:n.125-16_125-15insGACCCGCCGGCGCCGCTGCCG
ENST00000641691.1:c.125-16_125-15insGACCCGCCGGCGCCGCTGCCG	ENSP00000492910.1:n.125-16_125-15insGACCCGCCGGCGCCGCTGCCG
ENST00000641924.1:c.124+4599_124+4600insGACCCGCCGGCGCCGCTGCCG	ENSP00000493063.1:n.124+4599_124+4600insGACCCGCCGGCGCCGCTGCCG...
ENST00000642050.2:c.125-9_125-8insGACCCGCCGGCGCCGCTGCCG MANE Select	ENSP00000493153.1:n.125-9_125-8insGACCCGCCGGCGCCGCTGCCG
ENST00000372779.8:c.212-9_212-8insGACCCGCCGGCGCCGCTGCCG	ENSP00000361865.4:n.212-9_212-8insGACCCGCCGGCGCCGCTGCCG
ENST00000433473.7:c.125-9_125-8insGACCCGCCGGCGCCGCTGCCG	ENSP00000394863.3:n.125-9_125-8insGACCCGCCGGCGCCGCTGCCG
ENST00000449045.6:c.125-3004_125-3003insGACCCGCCGGCGCCGCTGCCG	ENSP00000392293.2:n.125-3004_125-3003insGACCCGCCGGCGCCGCTGCCG...
ENST00000526547.1:c.-26-9_-26-8insGACCCGCCGGCGCCGCTGCCG	ENSP00000436481.1:n.-26-9_-26-8insGACCCGCCGGCGCCGCTGCCG
ENST00000527311.6:c.125-459_125-458insGACCCGCCGGCGCCGCTGCCG	ENSP00000436695.2:n.125-459_125-458insGACCCGCCGGCGCCGCTGCCG
ENST00000529905.5:c.125-9_125-8insGACCCGCCGGCGCCGCTGCCG	ENSP00000432053.1:n.125-9_125-8insGACCCGCCGGCGCCGCTGCCG
ENST00000530704.5:c.125-9_125-8insGACCCGCCGGCGCCGCTGCCG	ENSP00000431655.1:n.125-9_125-8insGACCCGCCGGCGCCGCTGCCG
NM_000310.3:c.125-9_125-8insGACCCGCCGGCGCCGCTGCCG , LRG_690t1:c.125-9_125-8insGACCCGCCGGCGCCGCTGCCG	NP_000301.1:n.125-9_125-8insGACCCGCCGGCGCCGCTGCCG
NM_001142604.1:c.125-3004_125-3003insGACCCGCCGGCGCCGCTGCCG	NP_001136076.1:n.125-3004_125-3003insGACCCGCCGGCGCCGCTGCCG
XM_005271008.1:c.125-9_125-8insGACCCGCCGGCGCCGCTGCCG	XP_005271065.1:n.125-9_125-8insGACCCGCCGGCGCCGCTGCCG
NM_001363695.1:c.125-9_125-8insGACCCGCCGGCGCCGCTGCCG	NP_001350624.1:n.125-9_125-8insGACCCGCCGGCGCCGCTGCCG
NM_000310.4:c.125-9_125-8insGACCCGCCGGCGCCGCTGCCG MANE Select	NP_000301.1:n.125-9_125-8insGACCCGCCGGCGCCGCTGCCG
NM_001142604.2:c.125-3004_125-3003insGACCCGCCGGCGCCGCTGCCG	NP_001136076.1:n.125-3004_125-3003insGACCCGCCGGCGCCGCTGCCG
NM_001363695.2:c.125-9_125-8insGACCCGCCGGCGCCGCTGCCG	NP_001350624.1:n.125-9_125-8insGACCCGCCGGCGCCGCTGCCG