Canonical Allele Identifier: CA2582637690

Gene: NDUFS7

Linked Data

• gnomAD v4: 19-1390981-CCCGCGCCAGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1390985_1390994del , CM000681.2:g.1390985_1390994del	GRCh38
NC_000019.9:g.1390984_1390993del , CM000681.1:g.1390984_1390993del	GRCh37
NC_000019.8:g.1341984_1341993del	NCBI36
NG_008283.1:g.12102_12111del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233627.14:c.343_352del MANE Select	ENSP00000233627.9:p.Arg115ThrfsTer3
ENST00000233627.13:c.343_352del	ENSP00000233627.9:p.Arg115ThrfsTer3
ENST00000313408.11:c.343_352del	ENSP00000364262.5:p.Arg115ThrfsTer3
ENST00000414651.3:c.433_442del	ENSP00000406630.2:p.Arg145ThrfsTer3
ENST00000436115.6:n.2298_2307del
ENST00000534853.5:c.*137_*146del	ENSP00000442822.1:n.*137_*146del
ENST00000535382.1:n.595_604del
ENST00000538523.5:n.399_408del
ENST00000538662.5:n.370_379del
ENST00000538929.5:n.433_442del
ENST00000539480.5:c.343_352del	ENSP00000443273.1:p.Arg115ThrfsTer3
ENST00000540530.5:n.334_343del
ENST00000543289.5:n.833_842del
ENST00000545446.5:n.634_643del
ENST00000546172.7:c.*339_*348del	ENSP00000467094.1:n.*339_*348del
ENST00000546283.5:c.343_352del	ENSP00000440348.1:p.Arg115ThrfsTer3
ENST00000618074.4:c.343_352del	ENSP00000477895.1:p.Arg115ThrfsTer3
ENST00000620479.4:c.343_352del	ENSP00000480984.1:p.Arg115ThrfsTer3
ENST00000622587.4:n.339_348del
NM_024407.4:c.343_352del	NP_077718.3:p.Arg115ThrfsTer3
XM_005259556.3:c.343_352del	XP_005259613.2:p.Arg115ThrfsTer3
NM_001363602.1:c.343_352del	NP_001350531.1:p.Arg115ThrfsTer3
XM_024451499.1:c.364_373del	XP_024307267.1:p.Arg122ThrfsTer3
NM_024407.5:c.343_352del MANE Select	NP_077718.3:p.Arg115ThrfsTer3
NM_001363602.2:c.343_352del	NP_001350531.1:p.Arg115ThrfsTer3