Canonical Allele Identifier: CA2643056905

Gene: PARK7

Linked Data

• gnomAD v4: 1-7985131-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.7985132_7985133del , CM000663.2:g.7985132_7985133del	GRCh38
NC_000001.10:g.8045192_8045193del , CM000663.1:g.8045192_8045193del	GRCh37
NC_000001.9:g.7967779_7967780del	NCBI36
NG_008271.1:g.28479_28480del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338639.10:c.*78_*79del MANE Select	ENSP00000340278.5:n.*78_*79del
ENST00000338639.9:c.*78_*79del	ENSP00000340278.5:n.*78_*79del
ENST00000377491.5:c.*78_*79del	ENSP00000366711.1:n.*78_*79del
ENST00000377493.9:c.*78_*79del	ENSP00000466242.1:n.*78_*79del
ENST00000469225.1:c.561_562del	ENSP00000466756.1:n.561_562del
ENST00000493678.5:c.*78_*79del	ENSP00000418770.1:n.*78_*79del
NM_001123377.1:c.*78_*79del	NP_001116849.1:n.*78_*79del
NM_007262.4:c.*78_*79del	NP_009193.2:n.*78_*79del
XM_005263424.2:c.*78_*79del	XP_005263481.1:n.*78_*79del
XM_005263424.3:c.*78_*79del	XP_005263481.1:n.*78_*79del
NM_007262.5:c.*78_*79del MANE Select	NP_009193.2:n.*78_*79del
NM_001123377.2:c.*78_*79del	NP_001116849.1:n.*78_*79del