Canonical Allele Identifier: CA2743291758
Gene: PPT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40097310_40097311insA , CM000663.2:g.40097310_40097311insA GRCh38
NC_000001.10:g.40562982_40562983insA , CM000663.1:g.40562982_40562983insA GRCh37
NC_000001.9:g.40335569_40335570insA NCBI36
NG_009192.1:g.5160_5161insT , LRG_690:g.5160_5161insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000433473.7:c.-73_-72insT ENSP00000394863.3:n.-73_-72insT
NM_000310.3:c.-73_-72insT , LRG_690t1:c.-73_-72insT NP_000301.1:n.-73_-72insT
NM_001142604.1:c.-73_-72insT NP_001136076.1:n.-73_-72insT
NM_001363695.1:c.-73_-72insT NP_001350624.1:n.-73_-72insT