Canonical Allele Identifier: CA739208332
Gene: PARK7 HGNC NCBI

Linked Data

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)
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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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