Canonical Allele Identifier: CA2645093988
Gene: PPT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40097471_40097477dup , CM000663.2:g.40097471_40097477dup GRCh38
NC_000001.10:g.40563143_40563149dup , CM000663.1:g.40563143_40563149dup GRCh37
NC_000001.9:g.40335730_40335736dup NCBI36
NG_009192.1:g.4997_5003dup , LRG_690:g.4997_5003dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000433473.7:c.-236_-230dup ENSP00000394863.3:n.-236_-230dup