Canonical Allele Identifier: CA2645093934
Gene: PPT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40097415_40097416insC , CM000663.2:g.40097415_40097416insC GRCh38
NC_000001.10:g.40563087_40563088insC , CM000663.1:g.40563087_40563088insC GRCh37
NC_000001.9:g.40335674_40335675insC NCBI36
NG_009192.1:g.5055_5056insG , LRG_690:g.5055_5056insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000433473.7:c.-178_-177insG ENSP00000394863.3:n.-178_-177insG
NM_000310.3:c.-178_-177insG , LRG_690t1:c.-178_-177insG NP_000301.1:n.-178_-177insG
NM_001142604.1:c.-178_-177insG NP_001136076.1:n.-178_-177insG
NM_001363695.1:c.-178_-177insG NP_001350624.1:n.-178_-177insG