Canonical Allele Identifier: CA2743277233

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092596_40092597insA , CM000663.2:g.40092596_40092597insA	GRCh38
NC_000001.10:g.40558268_40558269insA , CM000663.1:g.40558268_40558269insA	GRCh37
NC_000001.9:g.40330855_40330856insA	NCBI36
NG_009192.1:g.9874_9875insT , LRG_690:g.9874_9875insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.129-90_129-89insT	ENSP00000361865.5:n.129-90_129-89insT
ENST00000433473.8:c.125-93_125-92insT	ENSP00000394863.4:n.125-93_125-92insT
ENST00000439754.6:c.125-90_125-89insT	ENSP00000403207.2:n.125-90_125-89insT
ENST00000449045.7:c.125-3085_125-3084insT	ENSP00000392293.2:n.125-3085_125-3084insT
ENST00000526547.2:c.405-90_405-89insT
ENST00000527311.7:c.125-90_125-89insT	ENSP00000436695.3:n.125-90_125-89insT
ENST00000530704.6:c.125-90_125-89insT	ENSP00000431655.1:n.125-90_125-89insT
ENST00000641083.1:c.103-90_103-89insT
ENST00000641236.1:n.137-90_137-89insT
ENST00000641319.1:c.125-90_125-89insT	ENSP00000493128.1:n.125-90_125-89insT
ENST00000641471.1:c.212-90_212-89insT	ENSP00000493146.1:n.212-90_212-89insT
ENST00000641548.1:c.125-97_125-96insT	ENSP00000492984.1:n.125-97_125-96insT
ENST00000641691.1:c.125-97_125-96insT	ENSP00000492910.1:n.125-97_125-96insT
ENST00000641924.1:c.124+4518_124+4519insT	ENSP00000493063.1:n.124+4518_124+4519insT
ENST00000642050.2:c.125-90_125-89insT MANE Select	ENSP00000493153.1:n.125-90_125-89insT
ENST00000372779.8:c.212-90_212-89insT	ENSP00000361865.4:n.212-90_212-89insT
ENST00000433473.7:c.125-90_125-89insT	ENSP00000394863.3:n.125-90_125-89insT
ENST00000449045.6:c.125-3085_125-3084insT	ENSP00000392293.2:n.125-3085_125-3084insT
ENST00000526547.1:c.-26-90_-26-89insT	ENSP00000436481.1:n.-26-90_-26-89insT
ENST00000527311.6:c.125-540_125-539insT	ENSP00000436695.2:n.125-540_125-539insT
ENST00000529905.5:c.125-90_125-89insT	ENSP00000432053.1:n.125-90_125-89insT
ENST00000530704.5:c.125-90_125-89insT	ENSP00000431655.1:n.125-90_125-89insT
NM_000310.3:c.125-90_125-89insT , LRG_690t1:c.125-90_125-89insT	NP_000301.1:n.125-90_125-89insT
NM_001142604.1:c.125-3085_125-3084insT	NP_001136076.1:n.125-3085_125-3084insT
XM_005271008.1:c.125-90_125-89insT	XP_005271065.1:n.125-90_125-89insT
NM_001363695.1:c.125-90_125-89insT	NP_001350624.1:n.125-90_125-89insT
NM_000310.4:c.125-90_125-89insT MANE Select	NP_000301.1:n.125-90_125-89insT
NM_001142604.2:c.125-3085_125-3084insT	NP_001136076.1:n.125-3085_125-3084insT
NM_001363695.2:c.125-90_125-89insT	NP_001350624.1:n.125-90_125-89insT