Canonical Allele Identifier: CA739208244

Gene: PARK7

Linked Data

• dbSNP Id: rs1391998177
• gnomAD v3: 1-7984832-GTAAT-G
• gnomAD v4: 1-7984832-GTAAT-G
• MyVariant Identifiers: chr1:g.8044893_8044896del (hg19) ; chr1:g.7984833_7984836del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.7984833_7984836del , CM000663.2:g.7984833_7984836del	GRCh38
NC_000001.10:g.8044893_8044896del , CM000663.1:g.8044893_8044896del	GRCh37
NC_000001.9:g.7967480_7967483del	NCBI36
NG_008271.1:g.28180_28183del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338639.10:c.410-61_410-58del MANE Select	ENSP00000340278.5:n.410-61_410-58del
ENST00000338639.9:c.410-61_410-58del	ENSP00000340278.5:n.410-61_410-58del
ENST00000377488.5:c.410-61_410-58del	ENSP00000366708.1:n.410-61_410-58del
ENST00000377491.5:c.410-61_410-58del	ENSP00000366711.1:n.410-61_410-58del
ENST00000377493.9:c.350-61_350-58del	ENSP00000466242.1:n.350-61_350-58del
ENST00000469225.1:c.293-31_293-28del	ENSP00000466756.1:n.293-31_293-28del
ENST00000493373.5:c.410-61_410-58del	ENSP00000465404.1:n.410-61_410-58del
ENST00000493678.5:c.410-61_410-58del	ENSP00000418770.1:n.410-61_410-58del
NM_001123377.1:c.410-61_410-58del	NP_001116849.1:n.410-61_410-58del
NM_007262.4:c.410-61_410-58del	NP_009193.2:n.410-61_410-58del
XM_005263424.2:c.410-61_410-58del	XP_005263481.1:n.410-61_410-58del
XM_005263424.3:c.410-61_410-58del	XP_005263481.1:n.410-61_410-58del
NM_007262.5:c.410-61_410-58del MANE Select	NP_009193.2:n.410-61_410-58del
NM_001123377.2:c.410-61_410-58del	NP_001116849.1:n.410-61_410-58del