Canonical Allele Identifier: CA520792777

Gene: PARK7

Linked Data

• dbSNP Id: rs1410593835
• gnomAD v2: 1-8045307-CTTG-C
• gnomAD v3: 1-7985247-CTTG-C
• gnomAD v4: 1-7985247-CTTG-C
• MyVariant Identifiers: chr1:g.8045308_8045310del (hg19) ; chr1:g.7985248_7985250del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.7985250_7985252del , CM000663.2:g.7985250_7985252del	GRCh38
NC_000001.10:g.8045310_8045312del , CM000663.1:g.8045310_8045312del	GRCh37
NC_000001.9:g.7967897_7967899del	NCBI36
NG_008271.1:g.28597_28599del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338639.10:c.*196_*198del MANE Select	ENSP00000340278.5:n.*196_*198del
ENST00000338639.9:c.*196_*198del	ENSP00000340278.5:n.*196_*198del
ENST00000377493.9:c.*196_*198del	ENSP00000466242.1:n.*196_*198del
ENST00000469225.1:c.679_681del	ENSP00000466756.1:n.679_681del
ENST00000493678.5:c.*196_*198del	ENSP00000418770.1:n.*196_*198del
NM_001123377.1:c.*196_*198del	NP_001116849.1:n.*196_*198del
NM_007262.4:c.*196_*198del	NP_009193.2:n.*196_*198del
XM_005263424.2:c.*196_*198del	XP_005263481.1:n.*196_*198del
XM_005263424.3:c.*196_*198del	XP_005263481.1:n.*196_*198del
NM_007262.5:c.*196_*198del MANE Select	NP_009193.2:n.*196_*198del
NM_001123377.2:c.*196_*198del	NP_001116849.1:n.*196_*198del