Canonical Allele Identifier: CA569608

Gene: PARK7

Linked Data

• dbSNP Id: rs527810593
• ExAC: 1:8044902 TTCTC / T
• gnomAD v2: 1-8044902-TTCTC-T
• gnomAD v4: 1-7984842-TTCTC-T
• MyVariant Identifiers: chr1:g.8044903_8044906del (hg19) ; chr1:g.7984843_7984846del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.7984843_7984846del , CM000663.2:g.7984843_7984846del	GRCh38
NC_000001.10:g.8044903_8044906del , CM000663.1:g.8044903_8044906del	GRCh37
NC_000001.9:g.7967490_7967493del	NCBI36
NG_008271.1:g.28190_28193del

Transcript Alleles

HGVS	Amino-acid change
ENST00000338639.10:c.410-51_410-48del MANE Select	ENSP00000340278.5:n.410-51_410-48del
ENST00000338639.9:c.410-51_410-48del	ENSP00000340278.5:n.410-51_410-48del
ENST00000377488.5:c.410-51_410-48del	ENSP00000366708.1:n.410-51_410-48del
ENST00000377491.5:c.410-51_410-48del	ENSP00000366711.1:n.410-51_410-48del
ENST00000377493.9:c.350-51_350-48del	ENSP00000466242.1:n.350-51_350-48del
ENST00000469225.1:c.293-21_293-18del	ENSP00000466756.1:n.293-21_293-18del
ENST00000493373.5:c.410-51_410-48del	ENSP00000465404.1:n.410-51_410-48del
ENST00000493678.5:c.410-51_410-48del	ENSP00000418770.1:n.410-51_410-48del
NM_001123377.1:c.410-51_410-48del	NP_001116849.1:n.410-51_410-48del
NM_007262.4:c.410-51_410-48del	NP_009193.2:n.410-51_410-48del
XM_005263424.2:c.410-51_410-48del	XP_005263481.1:n.410-51_410-48del
XM_005263424.3:c.410-51_410-48del	XP_005263481.1:n.410-51_410-48del
NM_007262.5:c.410-51_410-48del MANE Select	NP_009193.2:n.410-51_410-48del
NM_001123377.2:c.410-51_410-48del	NP_001116849.1:n.410-51_410-48del