Canonical Allele Identifier: CA739209093
Gene: PARK7 HGNC NCBI

Linked Data

dbSNP Id: rs1488994886
gnomAD v3: 1-7985305-CTCATT-C
gnomAD v4: 1-7985305-CTCATT-C
MyVariant Identifiers: chr1:g.8045366_8045370del (hg19) chr1:g.7985306_7985310del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.7985308_7985312del , CM000663.2:g.7985308_7985312del GRCh38
NC_000001.10:g.8045368_8045372del , CM000663.1:g.8045368_8045372del GRCh37
NC_000001.9:g.7967955_7967959del NCBI36
NG_008271.1:g.28655_28659del

Transcript Alleles

HGVS Amino-acid Change
ENST00000338639.10:c.*254_*258del MANE Select ENSP00000340278.5:n.*254_*258del
ENST00000493678.5:c.*254_*258del ENSP00000418770.1:n.*254_*258del
NM_007262.5:c.*254_*258del MANE Select NP_009193.2:n.*254_*258del
NM_001123377.2:c.*254_*258del NP_001116849.1:n.*254_*258del
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