Canonical Allele Identifier: CA2643057010
Gene: PARK7 HGNC NCBI

Linked Data

gnomAD v4: 1-7985293-CTTGTT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.7985298_7985302del , CM000663.2:g.7985298_7985302del GRCh38
NC_000001.10:g.8045358_8045362del , CM000663.1:g.8045358_8045362del GRCh37
NC_000001.9:g.7967945_7967949del NCBI36
NG_008271.1:g.28645_28649del

Transcript Alleles

HGVS Amino-acid Change
ENST00000338639.10:c.*244_*248del MANE Select ENSP00000340278.5:n.*244_*248del
ENST00000493678.5:c.*244_*248del ENSP00000418770.1:n.*244_*248del
NM_007262.5:c.*244_*248del MANE Select NP_009193.2:n.*244_*248del
NM_001123377.2:c.*244_*248del NP_001116849.1:n.*244_*248del
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Search 100 bp 3'