Canonical Allele Identifier: CA2743291765
Gene: PPT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40097342_40097343insA , CM000663.2:g.40097342_40097343insA GRCh38
NC_000001.10:g.40563014_40563015insA , CM000663.1:g.40563014_40563015insA GRCh37
NC_000001.9:g.40335601_40335602insA NCBI36
NG_009192.1:g.5128_5129insT , LRG_690:g.5128_5129insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000433473.7:c.-105_-104insT ENSP00000394863.3:n.-105_-104insT
NM_000310.3:c.-105_-104insT , LRG_690t1:c.-105_-104insT NP_000301.1:n.-105_-104insT
NM_001142604.1:c.-105_-104insT NP_001136076.1:n.-105_-104insT
NM_001363695.1:c.-105_-104insT NP_001350624.1:n.-105_-104insT