ClinGen Allele Registry
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Canonical Allele Identifier:
CA739208332
Gene: PARK7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3233830
ClinVar RCV Id:
RCV004527110
dbSNP Id:
rs1283858296
gnomAD v3:
1-7984892-AG-A
gnomAD v4:
1-7984892-AG-A
MyVariant Identifiers:
chr1:g.8044953del (hg19)
chr1:g.7984893del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.7984894del , CM000663.2:g.7984894del
GRCh38
NC_000001.10:g.8044954del , CM000663.1:g.8044954del
GRCh37
NC_000001.9:g.7967541del
NCBI36
NG_008271.1:g.28241del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000338639.10:c.410del
ENST00000338639.9:c.410del
ENST00000377488.5:c.410del
ENST00000377491.5:c.410del
ENST00000377493.9:c.350del
ENST00000469225.1:c.323del
ENSP00000466756.1:p.Gly108ValfsTer15
ENST00000493373.5:c.410del
ENST00000493678.5:c.410del
NM_001123377.1:c.410del
NM_007262.4:c.410del
XM_005263424.2:c.410del
XM_005263424.3:c.410del
NM_007262.5:c.410del
NM_001123377.2:c.410del
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