Canonical Allele Identifier: CA2645093939
Gene: PPT1 HGNC NCBI

Linked Data

gnomAD v4: 1-40097419-CG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40097420del , CM000663.2:g.40097420del GRCh38
NC_000001.10:g.40563092del , CM000663.1:g.40563092del GRCh37
NC_000001.9:g.40335679del NCBI36
NG_009192.1:g.5051del , LRG_690:g.5051del

Transcript Alleles

HGVS Amino-acid Change
ENST00000433473.7:c.-182del ENSP00000394863.3:n.-182del
NM_000310.3:c.-182del , LRG_690t1:c.-182del NP_000301.1:n.-182del
NM_001142604.1:c.-182del NP_001136076.1:n.-182del
NM_001363695.1:c.-182del NP_001350624.1:n.-182del
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