Canonical Allele Identifier: CA998307648

Gene: PARK7

Linked Data

• dbSNP Id: rs1640787044
• gnomAD v3: 1-7984916-TC-T
• gnomAD v4: 1-7984916-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.7984917del , CM000663.2:g.7984917del	GRCh38
NC_000001.10:g.8044977del , CM000663.1:g.8044977del	GRCh37
NC_000001.9:g.7967564del	NCBI36
NG_008271.1:g.28264del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338639.10:c.433del MANE Select	ENSP00000340278.5:p.Arg145ValfsTer7
ENST00000338639.9:c.433del	ENSP00000340278.5:p.Arg145ValfsTer7
ENST00000377488.5:c.433del	ENSP00000366708.1:p.Arg145ValfsTer7
ENST00000377491.5:c.433del	ENSP00000366711.1:p.Arg145ValfsTer7
ENST00000377493.9:c.373del	ENSP00000466242.1:p.Arg125ValfsTer7
ENST00000469225.1:c.346del	ENSP00000466756.1:p.Arg116ValfsTer7
ENST00000493373.5:c.433del	ENSP00000465404.1:p.Arg145ValfsTer7
ENST00000493678.5:c.433del	ENSP00000418770.1:p.Arg145ValfsTer7
NM_001123377.1:c.433del	NP_001116849.1:p.Arg145ValfsTer7
NM_007262.4:c.433del	NP_009193.2:p.Arg145ValfsTer7
XM_005263424.2:c.433del	XP_005263481.1:p.Arg145ValfsTer7
XM_005263424.3:c.433del	XP_005263481.1:p.Arg145ValfsTer7
NM_007262.5:c.433del MANE Select	NP_009193.2:p.Arg145ValfsTer7
NM_001123377.2:c.433del	NP_001116849.1:p.Arg145ValfsTer7