Canonical Allele Identifier: CA2643056872

Gene: PARK7

Linked Data

• gnomAD v4: 1-7984895-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.7984896dup , CM000663.2:g.7984896dup	GRCh38
NC_000001.10:g.8044956dup , CM000663.1:g.8044956dup	GRCh37
NC_000001.9:g.7967543dup	NCBI36
NG_008271.1:g.28243dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338639.10:c.412dup MANE Select	ENSP00000340278.5:p.His138ProfsTer6
ENST00000338639.9:c.412dup	ENSP00000340278.5:p.His138ProfsTer6
ENST00000377488.5:c.412dup	ENSP00000366708.1:p.His138ProfsTer6
ENST00000377491.5:c.412dup	ENSP00000366711.1:p.His138ProfsTer6
ENST00000377493.9:c.352dup	ENSP00000466242.1:p.His118ProfsTer6
ENST00000469225.1:c.325dup	ENSP00000466756.1:p.His109ProfsTer6
ENST00000493373.5:c.412dup	ENSP00000465404.1:p.His138ProfsTer6
ENST00000493678.5:c.412dup	ENSP00000418770.1:p.His138ProfsTer6
NM_001123377.1:c.412dup	NP_001116849.1:p.His138ProfsTer6
NM_007262.4:c.412dup	NP_009193.2:p.His138ProfsTer6
XM_005263424.2:c.412dup	XP_005263481.1:p.His138ProfsTer6
XM_005263424.3:c.412dup	XP_005263481.1:p.His138ProfsTer6
NM_007262.5:c.412dup MANE Select	NP_009193.2:p.His138ProfsTer6
NM_001123377.2:c.412dup	NP_001116849.1:p.His138ProfsTer6