Canonical Allele Identifier: CA992511896

Gene: NDUFS7

Linked Data

• gnomAD v3: 19-1391477-G-GTTTT
• gnomAD v4: 19-1391477-G-GTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1391482_1391485dup , CM000681.2:g.1391482_1391485dup	GRCh38
NC_000019.9:g.1391481_1391484dup , CM000681.1:g.1391481_1391484dup	GRCh37
NC_000019.8:g.1342481_1342484dup	NCBI36
NG_008283.1:g.12599_12602dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233627.14:c.455+317_455+320dup MANE Select	ENSP00000233627.9:n.455+317_455+320dup
ENST00000233627.13:c.455+317_455+320dup	ENSP00000233627.9:n.455+317_455+320dup
ENST00000313408.11:c.455+317_455+320dup	ENSP00000364262.5:n.455+317_455+320dup
ENST00000414651.3:c.545+317_545+320dup	ENSP00000406630.2:n.545+317_545+320dup
ENST00000436115.6:n.2410+317_2410+320dup
ENST00000534853.5:c.*249+317_*249+320dup	ENSP00000442822.1:n.*249+317_*249+320dup
ENST00000535382.1:n.707+317_707+320dup
ENST00000538523.5:n.511+317_511+320dup
ENST00000538662.5:n.550+317_550+320dup
ENST00000538929.5:n.545+317_545+320dup
ENST00000539480.5:c.455+317_455+320dup	ENSP00000443273.1:n.455+317_455+320dup
ENST00000540530.5:n.446+317_446+320dup
ENST00000543289.5:n.1013+317_1013+320dup
ENST00000545446.5:n.746+317_746+320dup
ENST00000546172.7:c.*451+317_*451+320dup	ENSP00000467094.1:n.*451+317_*451+320dup
ENST00000546283.5:c.455+317_455+320dup	ENSP00000440348.1:n.455+317_455+320dup
ENST00000618074.4:c.462+317_462+320dup	ENSP00000477895.1:n.462+317_462+320dup
ENST00000620479.4:c.459+317_459+320dup	ENSP00000480984.1:n.459+317_459+320dup
ENST00000622587.4:n.519+317_519+320dup
NM_024407.4:c.455+317_455+320dup	NP_077718.3:n.455+317_455+320dup
XM_005259556.3:c.455+317_455+320dup	XP_005259613.2:n.455+317_455+320dup
NM_001363602.1:c.455+317_455+320dup	NP_001350531.1:n.455+317_455+320dup
XM_024451499.1:c.476+317_476+320dup	XP_024307267.1:n.476+317_476+320dup
NM_024407.5:c.455+317_455+320dup MANE Select	NP_077718.3:n.455+317_455+320dup
NM_001363602.2:c.455+317_455+320dup	NP_001350531.1:n.455+317_455+320dup