Canonical Allele Identifier: CA739209064

Gene: PARK7

Linked Data

• dbSNP Id: rs1296748620
• gnomAD v3: 1-7985264-CAG-C
• gnomAD v4: 1-7985264-CAG-C
• MyVariant Identifiers: chr1:g.8045325_8045326del (hg19) ; chr1:g.7985265_7985266del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.7985265_7985266del , CM000663.2:g.7985265_7985266del	GRCh38
NC_000001.10:g.8045325_8045326del , CM000663.1:g.8045325_8045326del	GRCh37
NC_000001.9:g.7967912_7967913del	NCBI36
NG_008271.1:g.28612_28613del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338639.10:c.*211_*212del MANE Select	ENSP00000340278.5:n.*211_*212del
ENST00000338639.9:c.*211_*212del	ENSP00000340278.5:n.*211_*212del
ENST00000377493.9:c.*211_*212del	ENSP00000466242.1:n.*211_*212del
ENST00000469225.1:c.694_695del	ENSP00000466756.1:n.694_695del
ENST00000493678.5:c.*211_*212del	ENSP00000418770.1:n.*211_*212del
NM_001123377.1:c.*211_*212del	NP_001116849.1:n.*211_*212del
NM_007262.4:c.*211_*212del	NP_009193.2:n.*211_*212del
XM_005263424.2:c.*211_*212del	XP_005263481.1:n.*211_*212del
XM_005263424.3:c.*211_*212del	XP_005263481.1:n.*211_*212del
NM_007262.5:c.*211_*212del MANE Select	NP_009193.2:n.*211_*212del
NM_001123377.2:c.*211_*212del	NP_001116849.1:n.*211_*212del