Canonical Allele Identifier: CA521019989

Gene: PARK7

Linked Data

• ClinVar Variation Id: 1931055
• ClinVar RCV Id: RCV002631373
• dbSNP Id: rs1357585304
• gnomAD v2: 1-8044983-G-GA
• gnomAD v4: 1-7984923-G-GA
• MyVariant Identifiers: chr1:g.8044983_8044984insA (hg19) ; chr1:g.7984923_7984924insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.7984928dup , CM000663.2:g.7984928dup	GRCh38
NC_000001.10:g.8044988dup , CM000663.1:g.8044988dup	GRCh37
NC_000001.9:g.7967575dup	NCBI36
NG_008271.1:g.28275dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338639.10:c.444dup MANE Select	ENSP00000340278.5:p.Asp149ArgfsTer22
ENST00000338639.9:c.444dup	ENSP00000340278.5:p.Asp149ArgfsTer22
ENST00000377488.5:c.444dup	ENSP00000366708.1:p.Asp149ArgfsTer22
ENST00000377491.5:c.444dup	ENSP00000366711.1:p.Asp149ArgfsTer22
ENST00000377493.9:c.384dup	ENSP00000466242.1:p.Asp129ArgfsTer22
ENST00000469225.1:c.357dup	ENSP00000466756.1:p.Asp120ArgfsTer22
ENST00000493373.5:c.444dup	ENSP00000465404.1:p.Asp149ArgfsTer22
ENST00000493678.5:c.444dup	ENSP00000418770.1:p.Asp149ArgfsTer22
NM_001123377.1:c.444dup	NP_001116849.1:p.Asp149ArgfsTer22
NM_007262.4:c.444dup	NP_009193.2:p.Asp149ArgfsTer22
XM_005263424.2:c.444dup	XP_005263481.1:p.Asp149ArgfsTer22
XM_005263424.3:c.444dup	XP_005263481.1:p.Asp149ArgfsTer22
NM_007262.5:c.444dup MANE Select	NP_009193.2:p.Asp149ArgfsTer22
NM_001123377.2:c.444dup	NP_001116849.1:p.Asp149ArgfsTer22