Canonical Allele Identifier: CA2643055097
Gene: PARK7 HGNC NCBI

Linked Data

gnomAD v4: 1-7965243-C-CT

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.7965249dup , CM000663.2:g.7965249dup GRCh38
NC_000001.10:g.8025309dup , CM000663.1:g.8025309dup GRCh37
NC_000001.9:g.7947896dup NCBI36
NG_008271.1:g.8596dup

Transcript Alleles

HGVS Amino-acid change
ENST00000338639.10:c.91-75dup MANE Select ENSP00000340278.5:n.91-75dup
ENST00000338639.9:c.91-75dup ENSP00000340278.5:n.91-75dup
ENST00000377488.5:c.91-75dup ENSP00000366708.1:n.91-75dup
ENST00000377491.5:c.91-75dup ENSP00000366711.1:n.91-75dup
ENST00000377493.9:c.91-75dup ENSP00000466242.1:n.91-75dup
ENST00000460192.5:n.187-75dup
ENST00000465354.5:n.160-75dup
ENST00000493373.5:c.91-75dup ENSP00000465404.1:n.91-75dup
ENST00000493678.5:c.91-75dup ENSP00000418770.1:n.91-75dup
ENST00000497113.1:n.110-75dup
NM_001123377.1:c.91-75dup NP_001116849.1:n.91-75dup
NM_007262.4:c.91-75dup NP_009193.2:n.91-75dup
XM_005263424.2:c.91-75dup XP_005263481.1:n.91-75dup
XM_005263424.3:c.91-75dup XP_005263481.1:n.91-75dup
NM_007262.5:c.91-75dup MANE Select NP_009193.2:n.91-75dup
NM_001123377.2:c.91-75dup NP_001116849.1:n.91-75dup