Canonical Allele Identifier: CA569630

Gene: PARK7

Linked Data

• ClinVar Variation Id: 987356
• ClinVar RCV Id: RCV001268696 ; RCV001542552
• dbSNP Id: rs764877312
• ExAC: 1:8045014 GGCC / G
• gnomAD v2: 1-8045014-GGCC-G
• gnomAD v3: 1-7984954-GGCC-G
• gnomAD v4: 1-7984954-GGCC-G
• MyVariant Identifiers: chr1:g.8045015_8045017del (hg19) ; chr1:g.7984955_7984957del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.7984955_7984957del , CM000663.2:g.7984955_7984957del	GRCh38
NC_000001.10:g.8045015_8045017del , CM000663.1:g.8045015_8045017del	GRCh37
NC_000001.9:g.7967602_7967604del	NCBI36
NG_008271.1:g.28302_28304del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338639.10:c.471_473del MANE Select	ENSP00000340278.5:p.Pro158del
ENST00000338639.9:c.471_473del	ENSP00000340278.5:p.Pro158del
ENST00000377488.5:c.471_473del	ENSP00000366708.1:p.Pro158del
ENST00000377491.5:c.471_473del	ENSP00000366711.1:p.Pro158del
ENST00000377493.9:c.411_413del	ENSP00000466242.1:p.Pro138del
ENST00000469225.1:c.384_386del	ENSP00000466756.1:p.Pro129del
ENST00000493373.5:c.471_473del	ENSP00000465404.1:p.Pro158del
ENST00000493678.5:c.471_473del	ENSP00000418770.1:p.Pro158del
NM_001123377.1:c.471_473del	NP_001116849.1:p.Pro158del
NM_007262.4:c.471_473del	NP_009193.2:p.Pro158del
XM_005263424.2:c.471_473del	XP_005263481.1:p.Pro158del
XM_005263424.3:c.471_473del	XP_005263481.1:p.Pro158del
NM_007262.5:c.471_473del MANE Select	NP_009193.2:p.Pro158del
NM_001123377.2:c.471_473del	NP_001116849.1:p.Pro158del