Canonical Allele Identifier: CA415839161
Gene: PARK7 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.8045068_8045070del (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.7985011_7985013del , CM000663.2:g.7985011_7985013del GRCh38
NC_000001.10:g.8045071_8045073del , CM000663.1:g.8045071_8045073del GRCh37
NC_000001.9:g.7967658_7967660del NCBI36
NG_008271.1:g.28358_28360del

Transcript Alleles

HGVS Amino-acid Change
ENST00000338639.10:c.527_529del MANE Select ENSP00000340278.5:p.Glu176del
ENST00000338639.9:c.527_529del ENSP00000340278.5:p.Glu176del
ENST00000377488.5:c.527_529del ENSP00000366708.1:p.Glu176del
ENST00000377491.5:c.527_529del ENSP00000366711.1:p.Glu176del
ENST00000377493.9:c.467_469del ENSP00000466242.1:p.Glu156del
ENST00000469225.1:c.440_442del ENSP00000466756.1:p.Glu147del
ENST00000493373.5:c.527_529del ENSP00000465404.1:p.Glu176del
ENST00000493678.5:c.527_529del ENSP00000418770.1:p.Glu176del
NM_001123377.1:c.527_529del NP_001116849.1:p.Glu176del
NM_007262.4:c.527_529del NP_009193.2:p.Glu176del
XM_005263424.2:c.527_529del XP_005263481.1:p.Glu176del
XM_005263424.3:c.527_529del XP_005263481.1:p.Glu176del
NM_007262.5:c.527_529del MANE Select NP_009193.2:p.Glu176del
NM_001123377.2:c.527_529del NP_001116849.1:p.Glu176del