Canonical Allele Identifier: CA2743277205
Gene: PPT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40092575_40092576insAGA , CM000663.2:g.40092575_40092576insAGA GRCh38
NC_000001.10:g.40558247_40558248insAGA , CM000663.1:g.40558247_40558248insAGA GRCh37
NC_000001.9:g.40330834_40330835insAGA NCBI36
NG_009192.1:g.9895_9896insTCT , LRG_690:g.9895_9896insTCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000372779.9:c.129-69_129-68insTCT ENSP00000361865.5:n.129-69_129-68insTCT
ENST00000433473.8:c.125-72_125-71insTCT ENSP00000394863.4:n.125-72_125-71insTCT
ENST00000439754.6:c.125-69_125-68insTCT ENSP00000403207.2:n.125-69_125-68insTCT
ENST00000449045.7:c.125-3064_125-3063insTCT ENSP00000392293.2:n.125-3064_125-3063insTCT
ENST00000526547.2:c.405-69_405-68insTCT
ENST00000527311.7:c.125-69_125-68insTCT ENSP00000436695.3:n.125-69_125-68insTCT
ENST00000530704.6:c.125-69_125-68insTCT ENSP00000431655.1:n.125-69_125-68insTCT
ENST00000641083.1:c.103-69_103-68insTCT
ENST00000641236.1:n.137-69_137-68insTCT
ENST00000641319.1:c.125-69_125-68insTCT ENSP00000493128.1:n.125-69_125-68insTCT
ENST00000641471.1:c.212-69_212-68insTCT ENSP00000493146.1:n.212-69_212-68insTCT
ENST00000641548.1:c.125-76_125-75insTCT ENSP00000492984.1:n.125-76_125-75insTCT
ENST00000641691.1:c.125-76_125-75insTCT ENSP00000492910.1:n.125-76_125-75insTCT
ENST00000641924.1:c.124+4539_124+4540insTCT ENSP00000493063.1:n.124+4539_124+4540insTCT
ENST00000642050.2:c.125-69_125-68insTCT MANE Select ENSP00000493153.1:n.125-69_125-68insTCT
ENST00000372779.8:c.212-69_212-68insTCT ENSP00000361865.4:n.212-69_212-68insTCT
ENST00000433473.7:c.125-69_125-68insTCT ENSP00000394863.3:n.125-69_125-68insTCT
ENST00000449045.6:c.125-3064_125-3063insTCT ENSP00000392293.2:n.125-3064_125-3063insTCT
ENST00000526547.1:c.-26-69_-26-68insTCT ENSP00000436481.1:n.-26-69_-26-68insTCT
ENST00000527311.6:c.125-519_125-518insTCT ENSP00000436695.2:n.125-519_125-518insTCT
ENST00000529905.5:c.125-69_125-68insTCT ENSP00000432053.1:n.125-69_125-68insTCT
ENST00000530704.5:c.125-69_125-68insTCT ENSP00000431655.1:n.125-69_125-68insTCT
NM_000310.3:c.125-69_125-68insTCT , LRG_690t1:c.125-69_125-68insTCT NP_000301.1:n.125-69_125-68insTCT
NM_001142604.1:c.125-3064_125-3063insTCT NP_001136076.1:n.125-3064_125-3063insTCT
XM_005271008.1:c.125-69_125-68insTCT XP_005271065.1:n.125-69_125-68insTCT
NM_001363695.1:c.125-69_125-68insTCT NP_001350624.1:n.125-69_125-68insTCT
NM_000310.4:c.125-69_125-68insTCT MANE Select NP_000301.1:n.125-69_125-68insTCT
NM_001142604.2:c.125-3064_125-3063insTCT NP_001136076.1:n.125-3064_125-3063insTCT
NM_001363695.2:c.125-69_125-68insTCT NP_001350624.1:n.125-69_125-68insTCT