Canonical Allele Identifier: CA2743277193
Gene: PPT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40092569_40092570insACA , CM000663.2:g.40092569_40092570insACA GRCh38
NC_000001.10:g.40558241_40558242insACA , CM000663.1:g.40558241_40558242insACA GRCh37
NC_000001.9:g.40330828_40330829insACA NCBI36
NG_009192.1:g.9901_9902insTGT , LRG_690:g.9901_9902insTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000372779.9:c.129-63_129-62insTGT ENSP00000361865.5:n.129-63_129-62insTGT
ENST00000433473.8:c.125-66_125-65insTGT ENSP00000394863.4:n.125-66_125-65insTGT
ENST00000439754.6:c.125-63_125-62insTGT ENSP00000403207.2:n.125-63_125-62insTGT
ENST00000449045.7:c.125-3058_125-3057insTGT ENSP00000392293.2:n.125-3058_125-3057insTGT
ENST00000526547.2:c.405-63_405-62insTGT
ENST00000527311.7:c.125-63_125-62insTGT ENSP00000436695.3:n.125-63_125-62insTGT
ENST00000530704.6:c.125-63_125-62insTGT ENSP00000431655.1:n.125-63_125-62insTGT
ENST00000641083.1:c.103-63_103-62insTGT
ENST00000641236.1:n.137-63_137-62insTGT
ENST00000641319.1:c.125-63_125-62insTGT ENSP00000493128.1:n.125-63_125-62insTGT
ENST00000641471.1:c.212-63_212-62insTGT ENSP00000493146.1:n.212-63_212-62insTGT
ENST00000641548.1:c.125-70_125-69insTGT ENSP00000492984.1:n.125-70_125-69insTGT
ENST00000641691.1:c.125-70_125-69insTGT ENSP00000492910.1:n.125-70_125-69insTGT
ENST00000641924.1:c.124+4545_124+4546insTGT ENSP00000493063.1:n.124+4545_124+4546insTGT
ENST00000642050.2:c.125-63_125-62insTGT MANE Select ENSP00000493153.1:n.125-63_125-62insTGT
ENST00000372779.8:c.212-63_212-62insTGT ENSP00000361865.4:n.212-63_212-62insTGT
ENST00000433473.7:c.125-63_125-62insTGT ENSP00000394863.3:n.125-63_125-62insTGT
ENST00000449045.6:c.125-3058_125-3057insTGT ENSP00000392293.2:n.125-3058_125-3057insTGT
ENST00000526547.1:c.-26-63_-26-62insTGT ENSP00000436481.1:n.-26-63_-26-62insTGT
ENST00000527311.6:c.125-513_125-512insTGT ENSP00000436695.2:n.125-513_125-512insTGT
ENST00000529905.5:c.125-63_125-62insTGT ENSP00000432053.1:n.125-63_125-62insTGT
ENST00000530704.5:c.125-63_125-62insTGT ENSP00000431655.1:n.125-63_125-62insTGT
NM_000310.3:c.125-63_125-62insTGT , LRG_690t1:c.125-63_125-62insTGT NP_000301.1:n.125-63_125-62insTGT
NM_001142604.1:c.125-3058_125-3057insTGT NP_001136076.1:n.125-3058_125-3057insTGT
XM_005271008.1:c.125-63_125-62insTGT XP_005271065.1:n.125-63_125-62insTGT
NM_001363695.1:c.125-63_125-62insTGT NP_001350624.1:n.125-63_125-62insTGT
NM_000310.4:c.125-63_125-62insTGT MANE Select NP_000301.1:n.125-63_125-62insTGT
NM_001142604.2:c.125-3058_125-3057insTGT NP_001136076.1:n.125-3058_125-3057insTGT
NM_001363695.2:c.125-63_125-62insTGT NP_001350624.1:n.125-63_125-62insTGT