Canonical Allele Identifier: CA2743277156

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092539_40092540insACA , CM000663.2:g.40092539_40092540insACA	GRCh38
NC_000001.10:g.40558211_40558212insACA , CM000663.1:g.40558211_40558212insACA	GRCh37
NC_000001.9:g.40330798_40330799insACA	NCBI36
NG_009192.1:g.9931_9932insTGT , LRG_690:g.9931_9932insTGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000372779.9:c.129-33_129-32insTGT	ENSP00000361865.5:n.129-33_129-32insTGT
ENST00000433473.8:c.125-36_125-35insTGT	ENSP00000394863.4:n.125-36_125-35insTGT
ENST00000439754.6:c.125-33_125-32insTGT	ENSP00000403207.2:n.125-33_125-32insTGT
ENST00000449045.7:c.125-3028_125-3027insTGT	ENSP00000392293.2:n.125-3028_125-3027insTGT
ENST00000526547.2:c.405-33_405-32insTGT
ENST00000527311.7:c.125-33_125-32insTGT	ENSP00000436695.3:n.125-33_125-32insTGT
ENST00000530704.6:c.125-33_125-32insTGT	ENSP00000431655.1:n.125-33_125-32insTGT
ENST00000641083.1:c.103-33_103-32insTGT
ENST00000641236.1:n.137-33_137-32insTGT
ENST00000641319.1:c.125-33_125-32insTGT	ENSP00000493128.1:n.125-33_125-32insTGT
ENST00000641471.1:c.212-33_212-32insTGT	ENSP00000493146.1:n.212-33_212-32insTGT
ENST00000641548.1:c.125-40_125-39insTGT	ENSP00000492984.1:n.125-40_125-39insTGT
ENST00000641691.1:c.125-40_125-39insTGT	ENSP00000492910.1:n.125-40_125-39insTGT
ENST00000641924.1:c.124+4575_124+4576insTGT	ENSP00000493063.1:n.124+4575_124+4576insTGT
ENST00000642050.2:c.125-33_125-32insTGT MANE Select	ENSP00000493153.1:n.125-33_125-32insTGT
ENST00000372779.8:c.212-33_212-32insTGT	ENSP00000361865.4:n.212-33_212-32insTGT
ENST00000433473.7:c.125-33_125-32insTGT	ENSP00000394863.3:n.125-33_125-32insTGT
ENST00000449045.6:c.125-3028_125-3027insTGT	ENSP00000392293.2:n.125-3028_125-3027insTGT
ENST00000526547.1:c.-26-33_-26-32insTGT	ENSP00000436481.1:n.-26-33_-26-32insTGT
ENST00000527311.6:c.125-483_125-482insTGT	ENSP00000436695.2:n.125-483_125-482insTGT
ENST00000529905.5:c.125-33_125-32insTGT	ENSP00000432053.1:n.125-33_125-32insTGT
ENST00000530704.5:c.125-33_125-32insTGT	ENSP00000431655.1:n.125-33_125-32insTGT
NM_000310.3:c.125-33_125-32insTGT , LRG_690t1:c.125-33_125-32insTGT	NP_000301.1:n.125-33_125-32insTGT
NM_001142604.1:c.125-3028_125-3027insTGT	NP_001136076.1:n.125-3028_125-3027insTGT
XM_005271008.1:c.125-33_125-32insTGT	XP_005271065.1:n.125-33_125-32insTGT
NM_001363695.1:c.125-33_125-32insTGT	NP_001350624.1:n.125-33_125-32insTGT
NM_000310.4:c.125-33_125-32insTGT MANE Select	NP_000301.1:n.125-33_125-32insTGT
NM_001142604.2:c.125-3028_125-3027insTGT	NP_001136076.1:n.125-3028_125-3027insTGT
NM_001363695.2:c.125-33_125-32insTGT	NP_001350624.1:n.125-33_125-32insTGT