Canonical Allele Identifier: CA2645093868
Gene: PPT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40097351_40097352insTCAG , CM000663.2:g.40097351_40097352insTCAG GRCh38
NC_000001.10:g.40563023_40563024insTCAG , CM000663.1:g.40563023_40563024insTCAG GRCh37
NC_000001.9:g.40335610_40335611insTCAG NCBI36
NG_009192.1:g.5119_5120insCTGA , LRG_690:g.5119_5120insCTGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000433473.7:c.-114_-113insCTGA ENSP00000394863.3:n.-114_-113insCTGA
NM_000310.3:c.-114_-113insCTGA , LRG_690t1:c.-114_-113insCTGA NP_000301.1:n.-114_-113insCTGA
NM_001142604.1:c.-114_-113insCTGA NP_001136076.1:n.-114_-113insCTGA
NM_001363695.1:c.-114_-113insCTGA NP_001350624.1:n.-114_-113insCTGA