Canonical Allele Identifier: CA2317693803
Gene: NDUFS7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1389321_1389327delinsGCACACT , CM000681.2:g.1389321_1389327delinsGCACACT GRCh38
NC_000019.9:g.1389320_1389326delinsGCACACT , CM000681.1:g.1389320_1389326delinsGCACACT GRCh37
NC_000019.8:g.1340320_1340326delinsGCACACT NCBI36
NG_008283.1:g.10438_10444delinsGCACACT

Transcript Alleles

HGVS Amino-acid Change
ENST00000233627.14:c.228+383_228+389delinsGCACACT MANE Select ENSP00000233627.9:n.228+383_228+389delinsGCACACT
ENST00000233627.13:c.228+383_228+389delinsGCACACT ENSP00000233627.9:n.228+383_228+389delinsGCACACT
ENST00000313408.11:c.228+383_228+389delinsGCACACT ENSP00000364262.5:n.228+383_228+389delinsGCACACT
ENST00000414651.3:c.318+383_318+389delinsGCACACT ENSP00000406630.2:n.318+383_318+389delinsGCACACT
ENST00000436115.6:n.634_640delinsGCACACT
ENST00000534853.5:c.*22+383_*22+389delinsGCACACT ENSP00000442822.1:n.*22+383_*22+389delinsGCACACT
ENST00000535382.1:n.480+383_480+389delinsGCACACT
ENST00000538523.5:n.284+383_284+389delinsGCACACT
ENST00000538662.5:n.255+383_255+389delinsGCACACT
ENST00000538929.5:n.318+383_318+389delinsGCACACT
ENST00000539480.5:c.228+383_228+389delinsGCACACT ENSP00000443273.1:n.228+383_228+389delinsGCACACT
ENST00000540530.5:n.219+383_219+389delinsGCACACT
ENST00000543289.5:n.718+383_718+389delinsGCACACT
ENST00000545446.5:n.519+383_519+389delinsGCACACT
ENST00000546172.7:c.*224+383_*224+389delinsGCACACT ENSP00000467094.1:n.*224+383_*224+389delinsGCACACT
ENST00000546283.5:c.228+383_228+389delinsGCACACT ENSP00000440348.1:n.228+383_228+389delinsGCACACT
ENST00000618074.4:c.228+383_228+389delinsGCACACT ENSP00000477895.1:n.228+383_228+389delinsGCACACT
ENST00000620479.4:c.228+383_228+389delinsGCACACT ENSP00000480984.1:n.228+383_228+389delinsGCACACT
ENST00000622587.4:n.224+383_224+389delinsGCACACT
NM_024407.4:c.228+383_228+389delinsGCACACT NP_077718.3:n.228+383_228+389delinsGCACACT
XM_005259556.3:c.228+383_228+389delinsGCACACT XP_005259613.2:n.228+383_228+389delinsGCACACT
NM_001363602.1:c.228+383_228+389delinsGCACACT NP_001350531.1:n.228+383_228+389delinsGCACACT
XM_017026768.2:c.611_617delinsGCACACT XP_016882257.2:p.Cys204=
XM_024451499.1:c.249+383_249+389delinsGCACACT XP_024307267.1:n.249+383_249+389delinsGCACACT
NM_024407.5:c.228+383_228+389delinsGCACACT MANE Select NP_077718.3:n.228+383_228+389delinsGCACACT
NM_001363602.2:c.228+383_228+389delinsGCACACT NP_001350531.1:n.228+383_228+389delinsGCACACT