Canonical Allele Identifier: CA735697519
Gene: PPT1 HGNC NCBI

Linked Data

dbSNP Id: rs1328553617
gnomAD v3: 1-40097288-CG-C
gnomAD v4: 1-40097288-CG-C
MyVariant Identifiers: chr1:g.40562961del (hg19) chr1:g.40097289del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40097289del , CM000663.2:g.40097289del GRCh38
NC_000001.10:g.40562961del , CM000663.1:g.40562961del GRCh37
NC_000001.9:g.40335548del NCBI36
NG_009192.1:g.5182del , LRG_690:g.5182del

Transcript Alleles

HGVS Amino-acid Change
ENST00000433473.7:c.-51del ENSP00000394863.3:n.-51del
NM_000310.3:c.-51del , LRG_690t1:c.-51del NP_000301.1:n.-51del
NM_001142604.1:c.-51del NP_001136076.1:n.-51del
NM_001363695.1:c.-51del NP_001350624.1:n.-51del
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