Canonical Allele Identifier: CA992511356

Gene: NDUFS7

Linked Data

• dbSNP Id: rs2082538459
• gnomAD v3: 19-1389395-GCA-G
• gnomAD v4: 19-1389395-GCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1389399_1389400del , CM000681.2:g.1389399_1389400del	GRCh38
NC_000019.9:g.1389398_1389399del , CM000681.1:g.1389398_1389399del	GRCh37
NC_000019.8:g.1340398_1340399del	NCBI36
NG_008283.1:g.10516_10517del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233627.14:c.228+461_228+462del MANE Select	ENSP00000233627.9:n.228+461_228+462del
ENST00000233627.13:c.228+461_228+462del	ENSP00000233627.9:n.228+461_228+462del
ENST00000313408.11:c.228+461_228+462del	ENSP00000364262.5:n.228+461_228+462del
ENST00000414651.3:c.318+461_318+462del	ENSP00000406630.2:n.318+461_318+462del
ENST00000436115.6:n.712_713del
ENST00000534853.5:c.*22+461_*22+462del	ENSP00000442822.1:n.*22+461_*22+462del
ENST00000535382.1:n.480+461_480+462del
ENST00000538523.5:n.284+461_284+462del
ENST00000538662.5:n.255+461_255+462del
ENST00000538929.5:n.318+461_318+462del
ENST00000539480.5:c.228+461_228+462del	ENSP00000443273.1:n.228+461_228+462del
ENST00000540530.5:n.219+461_219+462del
ENST00000543289.5:n.718+461_718+462del
ENST00000545446.5:n.519+461_519+462del
ENST00000546172.7:c.*224+461_*224+462del	ENSP00000467094.1:n.*224+461_*224+462del
ENST00000546283.5:c.228+461_228+462del	ENSP00000440348.1:n.228+461_228+462del
ENST00000618074.4:c.228+461_228+462del	ENSP00000477895.1:n.228+461_228+462del
ENST00000620479.4:c.228+461_228+462del	ENSP00000480984.1:n.228+461_228+462del
ENST00000622587.4:n.224+461_224+462del
NM_024407.4:c.228+461_228+462del	NP_077718.3:n.228+461_228+462del
XM_005259556.3:c.228+461_228+462del	XP_005259613.2:n.228+461_228+462del
NM_001363602.1:c.228+461_228+462del	NP_001350531.1:n.228+461_228+462del
XM_017026768.2:c.689_690del	XP_016882257.2:p.His230LeufsTer?
XM_024451499.1:c.249+461_249+462del	XP_024307267.1:n.249+461_249+462del
NM_024407.5:c.228+461_228+462del MANE Select	NP_077718.3:n.228+461_228+462del
NM_001363602.2:c.228+461_228+462del	NP_001350531.1:n.228+461_228+462del