Canonical Allele Identifier: CA2317694042

Gene: NDUFS7

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1389684_1389704delinsCCTGCCATCCCCCTGCAGCGT , CM000681.2:g.1389684_1389704delinsCCTGCCATCCCCCTGCAGCGT	GRCh38
NC_000019.9:g.1389683_1389703delinsCCTGCCATCCCCCTGCAGCGT , CM000681.1:g.1389683_1389703delinsCCTGCCATCCCCCTGCAGCGT	GRCh37
NC_000019.8:g.1340683_1340703delinsCCTGCCATCCCCCTGCAGCGT	NCBI36
NG_008283.1:g.10801_10821delinsCCTGCCATCCCCCTGCAGCGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233627.14:c.228+746_228+766delinsCCTGCCATCCCCCTGCAGCGT MANE Select	ENSP00000233627.9:n.228+746_228+766delinsCCTGCCATCCCCCTGCAGCG...
ENST00000233627.13:c.228+746_228+766delinsCCTGCCATCCCCCTGCAGCGT	ENSP00000233627.9:n.228+746_228+766delinsCCTGCCATCCCCCTGCAGCG...
ENST00000313408.11:c.228+746_228+766delinsCCTGCCATCCCCCTGCAGCGT	ENSP00000364262.5:n.228+746_228+766delinsCCTGCCATCCCCCTGCAGCG...
ENST00000414651.3:c.318+746_318+766delinsCCTGCCATCCCCCTGCAGCGT	ENSP00000406630.2:n.318+746_318+766delinsCCTGCCATCCCCCTGCAGCG...
ENST00000436115.6:n.997_1017delinsCCTGCCATCCCCCTGCAGCGT
ENST00000534853.5:c.*22+746_*22+766delinsCCTGCCATCCCCCTGCAGCGT	ENSP00000442822.1:n.*22+746_*22+766delinsCCTGCCATCCCCCTGCAGCG...
ENST00000535382.1:n.480+746_480+766delinsCCTGCCATCCCCCTGCAGCGT
ENST00000538523.5:n.284+746_284+766delinsCCTGCCATCCCCCTGCAGCGT
ENST00000538662.5:n.255+746_255+766delinsCCTGCCATCCCCCTGCAGCGT
ENST00000538929.5:n.318+746_318+766delinsCCTGCCATCCCCCTGCAGCGT
ENST00000539480.5:c.228+746_228+766delinsCCTGCCATCCCCCTGCAGCGT	ENSP00000443273.1:n.228+746_228+766delinsCCTGCCATCCCCCTGCAGCG...
ENST00000540530.5:n.219+746_219+766delinsCCTGCCATCCCCCTGCAGCGT
ENST00000543289.5:n.718+746_718+766delinsCCTGCCATCCCCCTGCAGCGT
ENST00000545446.5:n.519+746_519+766delinsCCTGCCATCCCCCTGCAGCGT
ENST00000546172.7:c.*224+746_*224+766delinsCCTGCCATCCCCCTGCAGCGT	ENSP00000467094.1:n.*224+746_*224+766delinsCCTGCCATCCCCCTGCAG...
ENST00000546283.5:c.228+746_228+766delinsCCTGCCATCCCCCTGCAGCGT	ENSP00000440348.1:n.228+746_228+766delinsCCTGCCATCCCCCTGCAGCG...
ENST00000618074.4:c.228+746_228+766delinsCCTGCCATCCCCCTGCAGCGT	ENSP00000477895.1:n.228+746_228+766delinsCCTGCCATCCCCCTGCAGCG...
ENST00000620479.4:c.228+746_228+766delinsCCTGCCATCCCCCTGCAGCGT	ENSP00000480984.1:n.228+746_228+766delinsCCTGCCATCCCCCTGCAGCG...
ENST00000622587.4:n.224+746_224+766delinsCCTGCCATCCCCCTGCAGCGT
NM_024407.4:c.228+746_228+766delinsCCTGCCATCCCCCTGCAGCGT	NP_077718.3:n.228+746_228+766delinsCCTGCCATCCCCCTGCAGCGT
XM_005259556.3:c.228+746_228+766delinsCCTGCCATCCCCCTGCAGCGT	XP_005259613.2:n.228+746_228+766delinsCCTGCCATCCCCCTGCAGCGT
NM_001363602.1:c.228+746_228+766delinsCCTGCCATCCCCCTGCAGCGT	NP_001350531.1:n.228+746_228+766delinsCCTGCCATCCCCCTGCAGCGT
XM_017026768.2:c.*89_*109delinsCCTGCCATCCCCCTGCAGCGT	XP_016882257.2:n.*89_*109delinsCCTGCCATCCCCCTGCAGCGT
XM_024451499.1:c.249+746_249+766delinsCCTGCCATCCCCCTGCAGCGT	XP_024307267.1:n.249+746_249+766delinsCCTGCCATCCCCCTGCAGCGT
NM_024407.5:c.228+746_228+766delinsCCTGCCATCCCCCTGCAGCGT MANE Select	NP_077718.3:n.228+746_228+766delinsCCTGCCATCCCCCTGCAGCGT
NM_001363602.2:c.228+746_228+766delinsCCTGCCATCCCCCTGCAGCGT	NP_001350531.1:n.228+746_228+766delinsCCTGCCATCCCCCTGCAGCGT