Canonical Allele Identifier: CA1164248731
Gene: PPT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40097352_40097353delinsGC , CM000663.2:g.40097352_40097353delinsGC GRCh38
NC_000001.10:g.40563024_40563025delinsGC , CM000663.1:g.40563024_40563025delinsGC GRCh37
NC_000001.9:g.40335611_40335612delinsGC NCBI36
NG_009192.1:g.5118_5119delinsGC , LRG_690:g.5118_5119delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000433473.7:c.-115_-114delinsGC ENSP00000394863.3:n.-115_-114delinsGC
NM_000310.3:c.-115_-114delinsGC , LRG_690t1:c.-115_-114delinsGC NP_000301.1:n.-115_-114delinsGC
NM_001142604.1:c.-115_-114delinsGC NP_001136076.1:n.-115_-114delinsGC
NM_001363695.1:c.-115_-114delinsGC NP_001350624.1:n.-115_-114delinsGC