Canonical Allele Identifier: CA2643056958
Gene: PARK7 HGNC NCBI

Linked Data

gnomAD v4: 1-7985221-C-CA

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.7985224dup , CM000663.2:g.7985224dup GRCh38
NC_000001.10:g.8045284dup , CM000663.1:g.8045284dup GRCh37
NC_000001.9:g.7967871dup NCBI36
NG_008271.1:g.28571dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000338639.10:c.*170dup MANE Select ENSP00000340278.5:n.*170dup
ENST00000338639.9:c.*170dup ENSP00000340278.5:n.*170dup
ENST00000377491.5:c.*170dup ENSP00000366711.1:n.*170dup
ENST00000377493.9:c.*170dup ENSP00000466242.1:n.*170dup
ENST00000469225.1:c.653dup ENSP00000466756.1:n.653dup
ENST00000493678.5:c.*170dup ENSP00000418770.1:n.*170dup
NM_001123377.1:c.*170dup NP_001116849.1:n.*170dup
NM_007262.4:c.*170dup NP_009193.2:n.*170dup
XM_005263424.2:c.*170dup XP_005263481.1:n.*170dup
XM_005263424.3:c.*170dup XP_005263481.1:n.*170dup
NM_007262.5:c.*170dup MANE Select NP_009193.2:n.*170dup
NM_001123377.2:c.*170dup NP_001116849.1:n.*170dup