Canonical Allele Identifier: CA739209087
Gene: PARK7 HGNC NCBI

Linked Data

dbSNP Id: rs1358127399
gnomAD v4: 1-7985301-GTC-G
MyVariant Identifiers: chr1:g.8045362_8045363del (hg19) chr1:g.7985302_7985303del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.7985306_7985307del , CM000663.2:g.7985306_7985307del GRCh38
NC_000001.10:g.8045366_8045367del , CM000663.1:g.8045366_8045367del GRCh37
NC_000001.9:g.7967953_7967954del NCBI36
NG_008271.1:g.28653_28654del

Transcript Alleles

HGVS Amino-acid Change
ENST00000338639.10:c.*252_*253del MANE Select ENSP00000340278.5:n.*252_*253del
ENST00000493678.5:c.*252_*253del ENSP00000418770.1:n.*252_*253del
NM_007262.5:c.*252_*253del MANE Select NP_009193.2:n.*252_*253del
NM_001123377.2:c.*252_*253del NP_001116849.1:n.*252_*253del
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