Canonical Allele Identifier: CA2643057002

Gene: PARK7

Linked Data

• gnomAD v4: 1-7985285-G-GTTAGAATGAAACAAATATGCGTGAGTTAA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.7985285_7985286insTTAGAATGAAACAAATATGCGTGAGTTAA , CM000663.2:g.7985285_7985286insTTAGAATGAAACAAATATGCGTGAGTTAA	GRCh38
NC_000001.10:g.8045345_8045346insTTAGAATGAAACAAATATGCGTGAGTTAA , CM000663.1:g.8045345_8045346insTTAGAATGAAACAAATATGCGTGAGTTAA	GRCh37
NC_000001.9:g.7967932_7967933insTTAGAATGAAACAAATATGCGTGAGTTAA	NCBI36
NG_008271.1:g.28632_28633insTTAGAATGAAACAAATATGCGTGAGTTAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338639.10:c.*231_*232insTTAGAATGAAACAAATATGCGTGAGTTAA MANE Select	ENSP00000340278.5:n.*231_*232insTTAGAATGAAACAAATATGCGTGAGTTAA...
ENST00000493678.5:c.*231_*232insTTAGAATGAAACAAATATGCGTGAGTTAA	ENSP00000418770.1:n.*231_*232insTTAGAATGAAACAAATATGCGTGAGTTAA...
NM_007262.5:c.*231_*232insTTAGAATGAAACAAATATGCGTGAGTTAA MANE Select	NP_009193.2:n.*231_*232insTTAGAATGAAACAAATATGCGTGAGTTAA
NM_001123377.2:c.*231_*232insTTAGAATGAAACAAATATGCGTGAGTTAA	NP_001116849.1:n.*231_*232insTTAGAATGAAACAAATATGCGTGAGTTAA