Canonical Allele Identifier: CA1164248696
Gene: PPT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40097331_40097332delinsCG , CM000663.2:g.40097331_40097332delinsCG GRCh38
NC_000001.10:g.40563003_40563004delinsCG , CM000663.1:g.40563003_40563004delinsCG GRCh37
NC_000001.9:g.40335590_40335591delinsCG NCBI36
NG_009192.1:g.5139_5140delinsCG , LRG_690:g.5139_5140delinsCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000433473.7:c.-94_-93delinsCG ENSP00000394863.3:n.-94_-93delinsCG
NM_000310.3:c.-94_-93delinsCG , LRG_690t1:c.-94_-93delinsCG NP_000301.1:n.-94_-93delinsCG
NM_001142604.1:c.-94_-93delinsCG NP_001136076.1:n.-94_-93delinsCG
NM_001363695.1:c.-94_-93delinsCG NP_001350624.1:n.-94_-93delinsCG