Canonical Allele Identifier: CA2743277425
Gene: PPT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40080579_40080580insTAAA , CM000663.2:g.40080579_40080580insTAAA GRCh38
NC_000001.10:g.40546251_40546252insTAAA , CM000663.1:g.40546251_40546252insTAAA GRCh37
NC_000001.9:g.40318838_40318839insTAAA NCBI36
NG_009192.1:g.21893_21894insTATT , LRG_690:g.21893_21894insTATT

Transcript Alleles

HGVS Amino-acid Change
ENST00000372779.9:c.*373-91_*373-90insTATT ENSP00000361865.5:n.*373-91_*373-90insTATT
ENST00000433473.8:c.534-91_534-90insTATT ENSP00000394863.4:n.534-91_534-90insTATT
ENST00000439754.6:c.537-91_537-90insTATT ENSP00000403207.2:n.537-91_537-90insTATT
ENST00000449045.7:c.228-91_228-90insTATT ENSP00000392293.2:n.228-91_228-90insTATT
ENST00000527311.7:c.306-91_306-90insTATT ENSP00000436695.3:n.306-91_306-90insTATT
ENST00000530076.6:c.-121-91_-121-90insTATT ENSP00000434007.1:n.-121-91_-121-90insTATT
ENST00000530704.6:c.*160-91_*160-90insTATT ENSP00000431655.1:n.*160-91_*160-90insTATT
ENST00000641083.1:c.515-91_515-90insTATT
ENST00000641236.1:n.774-91_774-90insTATT
ENST00000641319.1:c.537-91_537-90insTATT ENSP00000493128.1:n.537-91_537-90insTATT
ENST00000641381.1:c.149-3665_149-3664insTATT
ENST00000641471.1:c.624-91_624-90insTATT ENSP00000493146.1:n.624-91_624-90insTATT
ENST00000641691.1:c.*389-91_*389-90insTATT ENSP00000492910.1:n.*389-91_*389-90insTATT
ENST00000641924.1:c.125-91_125-90insTATT ENSP00000493063.1:n.125-91_125-90insTATT
ENST00000642050.2:c.537-91_537-90insTATT MANE Select ENSP00000493153.1:n.537-91_537-90insTATT
ENST00000372779.8:c.624-91_624-90insTATT ENSP00000361865.4:n.624-91_624-90insTATT
ENST00000433473.7:c.537-91_537-90insTATT ENSP00000394863.3:n.537-91_537-90insTATT
ENST00000439754.5:c.222-91_222-90insTATT ENSP00000403207.1:n.222-91_222-90insTATT
ENST00000449045.6:c.228-91_228-90insTATT ENSP00000392293.2:n.228-91_228-90insTATT
ENST00000527311.6:c.312-91_312-90insTATT ENSP00000436695.2:n.312-91_312-90insTATT
ENST00000529905.5:c.537-91_537-90insTATT ENSP00000432053.1:n.537-91_537-90insTATT
ENST00000530076.5:c.-121-91_-121-90insTATT ENSP00000434007.1:n.-121-91_-121-90insTATT
ENST00000530704.5:c.*160-91_*160-90insTATT ENSP00000431655.1:n.*160-91_*160-90insTATT
NM_000310.3:c.537-91_537-90insTATT , LRG_690t1:c.537-91_537-90insTATT NP_000301.1:n.537-91_537-90insTATT
NM_001142604.1:c.228-91_228-90insTATT NP_001136076.1:n.228-91_228-90insTATT
XM_005271008.1:c.537-91_537-90insTATT XP_005271065.1:n.537-91_537-90insTATT
NM_001363695.1:c.537-91_537-90insTATT NP_001350624.1:n.537-91_537-90insTATT
NM_000310.4:c.537-91_537-90insTATT MANE Select NP_000301.1:n.537-91_537-90insTATT
NM_001142604.2:c.228-91_228-90insTATT NP_001136076.1:n.228-91_228-90insTATT
NM_001363695.2:c.537-91_537-90insTATT NP_001350624.1:n.537-91_537-90insTATT