Canonical Allele Identifier: CA739208890

Gene: PARK7

Linked Data

• dbSNP Id: rs1174474636
• gnomAD v4: 1-7985110-CTG-C
• MyVariant Identifiers: chr1:g.8045171_8045172del (hg19) ; chr1:g.7985111_7985112del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.7985114_7985115del , CM000663.2:g.7985114_7985115del	GRCh38
NC_000001.10:g.8045174_8045175del , CM000663.1:g.8045174_8045175del	GRCh37
NC_000001.9:g.7967761_7967762del	NCBI36
NG_008271.1:g.28461_28462del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338639.10:c.*60_*61del MANE Select	ENSP00000340278.5:n.*60_*61del
ENST00000338639.9:c.*60_*61del	ENSP00000340278.5:n.*60_*61del
ENST00000377491.5:c.*60_*61del	ENSP00000366711.1:n.*60_*61del
ENST00000377493.9:c.*60_*61del	ENSP00000466242.1:n.*60_*61del
ENST00000469225.1:c.543_544del	ENSP00000466756.1:n.543_544del
ENST00000493678.5:c.*60_*61del	ENSP00000418770.1:n.*60_*61del
NM_001123377.1:c.*60_*61del	NP_001116849.1:n.*60_*61del
NM_007262.4:c.*60_*61del	NP_009193.2:n.*60_*61del
XM_005263424.2:c.*60_*61del	XP_005263481.1:n.*60_*61del
XM_005263424.3:c.*60_*61del	XP_005263481.1:n.*60_*61del
NM_007262.5:c.*60_*61del MANE Select	NP_009193.2:n.*60_*61del
NM_001123377.2:c.*60_*61del	NP_001116849.1:n.*60_*61del