Canonical Allele Identifier: CA2643056873

Gene: PARK7

Linked Data

• gnomAD v4: 1-7984896-CAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.7984897_7984898del , CM000663.2:g.7984897_7984898del	GRCh38
NC_000001.10:g.8044957_8044958del , CM000663.1:g.8044957_8044958del	GRCh37
NC_000001.9:g.7967544_7967545del	NCBI36
NG_008271.1:g.28244_28245del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338639.10:c.413_414del MANE Select	ENSP00000340278.5:p.His138LeufsTer5
ENST00000338639.9:c.413_414del	ENSP00000340278.5:p.His138LeufsTer5
ENST00000377488.5:c.413_414del	ENSP00000366708.1:p.His138LeufsTer5
ENST00000377491.5:c.413_414del	ENSP00000366711.1:p.His138LeufsTer5
ENST00000377493.9:c.353_354del	ENSP00000466242.1:p.His118LeufsTer5
ENST00000469225.1:c.326_327del	ENSP00000466756.1:p.His109LeufsTer5
ENST00000493373.5:c.413_414del	ENSP00000465404.1:p.His138LeufsTer5
ENST00000493678.5:c.413_414del	ENSP00000418770.1:p.His138LeufsTer5
NM_001123377.1:c.413_414del	NP_001116849.1:p.His138LeufsTer5
NM_007262.4:c.413_414del	NP_009193.2:p.His138LeufsTer5
XM_005263424.2:c.413_414del	XP_005263481.1:p.His138LeufsTer5
XM_005263424.3:c.413_414del	XP_005263481.1:p.His138LeufsTer5
NM_007262.5:c.413_414del MANE Select	NP_009193.2:p.His138LeufsTer5
NM_001123377.2:c.413_414del	NP_001116849.1:p.His138LeufsTer5