Canonical Allele Identifier: CA739209035

Gene: PARK7

Linked Data

• dbSNP Id: rs1169371751
• gnomAD v3: 1-7985199-TAC-T
• gnomAD v4: 1-7985199-TAC-T
• MyVariant Identifiers: chr1:g.8045260_8045261del (hg19) ; chr1:g.7985200_7985201del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.7985203_7985204del , CM000663.2:g.7985203_7985204del	GRCh38
NC_000001.10:g.8045263_8045264del , CM000663.1:g.8045263_8045264del	GRCh37
NC_000001.9:g.7967850_7967851del	NCBI36
NG_008271.1:g.28550_28551del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338639.10:c.*149_*150del MANE Select	ENSP00000340278.5:n.*149_*150del
ENST00000338639.9:c.*149_*150del	ENSP00000340278.5:n.*149_*150del
ENST00000377491.5:c.*149_*150del	ENSP00000366711.1:n.*149_*150del
ENST00000377493.9:c.*149_*150del	ENSP00000466242.1:n.*149_*150del
ENST00000469225.1:c.632_633del	ENSP00000466756.1:n.632_633del
ENST00000493678.5:c.*149_*150del	ENSP00000418770.1:n.*149_*150del
NM_001123377.1:c.*149_*150del	NP_001116849.1:n.*149_*150del
NM_007262.4:c.*149_*150del	NP_009193.2:n.*149_*150del
XM_005263424.2:c.*149_*150del	XP_005263481.1:n.*149_*150del
XM_005263424.3:c.*149_*150del	XP_005263481.1:n.*149_*150del
NM_007262.5:c.*149_*150del MANE Select	NP_009193.2:n.*149_*150del
NM_001123377.2:c.*149_*150del	NP_001116849.1:n.*149_*150del