Canonical Allele Identifier: CA2743291777
Gene: PPT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40097438_40097439insA , CM000663.2:g.40097438_40097439insA GRCh38
NC_000001.10:g.40563110_40563111insA , CM000663.1:g.40563110_40563111insA GRCh37
NC_000001.9:g.40335697_40335698insA NCBI36
NG_009192.1:g.5032_5033insT , LRG_690:g.5032_5033insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000433473.7:c.-201_-200insT ENSP00000394863.3:n.-201_-200insT
NM_000310.3:c.-201_-200insT , LRG_690t1:c.-201_-200insT NP_000301.1:n.-201_-200insT
NM_001142604.1:c.-201_-200insT NP_001136076.1:n.-201_-200insT
NM_001363695.1:c.-201_-200insT NP_001350624.1:n.-201_-200insT