Canonical Allele Identifier: CA2645093859
Gene: PPT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40097350dup , CM000663.2:g.40097350dup GRCh38
NC_000001.10:g.40563022dup , CM000663.1:g.40563022dup GRCh37
NC_000001.9:g.40335609dup NCBI36
NG_009192.1:g.5123dup , LRG_690:g.5123dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000433473.7:c.-110dup ENSP00000394863.3:n.-110dup
NM_000310.3:c.-110dup , LRG_690t1:c.-110dup NP_000301.1:n.-110dup
NM_001142604.1:c.-110dup NP_001136076.1:n.-110dup
NM_001363695.1:c.-110dup NP_001350624.1:n.-110dup