Canonical Allele Identifier: CA2317694170
Gene: NDUFS7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1389891_1389892delinsCT , CM000681.2:g.1389891_1389892delinsCT GRCh38
NC_000019.9:g.1389890_1389891delinsCT , CM000681.1:g.1389890_1389891delinsCT GRCh37
NC_000019.8:g.1340890_1340891delinsCT NCBI36
NG_008283.1:g.11008_11009delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000233627.14:c.228+953_228+954delinsCT MANE Select ENSP00000233627.9:n.228+953_228+954delinsCT
ENST00000233627.13:c.228+953_228+954delinsCT ENSP00000233627.9:n.228+953_228+954delinsCT
ENST00000313408.11:c.228+953_228+954delinsCT ENSP00000364262.5:n.228+953_228+954delinsCT
ENST00000414651.3:c.318+953_318+954delinsCT ENSP00000406630.2:n.318+953_318+954delinsCT
ENST00000436115.6:n.1204_1205delinsCT
ENST00000534853.5:c.*22+953_*22+954delinsCT ENSP00000442822.1:n.*22+953_*22+954delinsCT
ENST00000535382.1:n.480+953_480+954delinsCT
ENST00000538523.5:n.284+953_284+954delinsCT
ENST00000538662.5:n.255+953_255+954delinsCT
ENST00000538929.5:n.318+953_318+954delinsCT
ENST00000539480.5:c.228+953_228+954delinsCT ENSP00000443273.1:n.228+953_228+954delinsCT
ENST00000540530.5:n.219+953_219+954delinsCT
ENST00000543289.5:n.718+953_718+954delinsCT
ENST00000545446.5:n.519+953_519+954delinsCT
ENST00000546172.7:c.*224+953_*224+954delinsCT ENSP00000467094.1:n.*224+953_*224+954delinsCT
ENST00000546283.5:c.228+953_228+954delinsCT ENSP00000440348.1:n.228+953_228+954delinsCT
ENST00000618074.4:c.228+953_228+954delinsCT ENSP00000477895.1:n.228+953_228+954delinsCT
ENST00000620479.4:c.228+953_228+954delinsCT ENSP00000480984.1:n.228+953_228+954delinsCT
ENST00000622587.4:n.224+953_224+954delinsCT
NM_024407.4:c.228+953_228+954delinsCT NP_077718.3:n.228+953_228+954delinsCT
XM_005259556.3:c.228+953_228+954delinsCT XP_005259613.2:n.228+953_228+954delinsCT
NM_001363602.1:c.228+953_228+954delinsCT NP_001350531.1:n.228+953_228+954delinsCT
XM_024451499.1:c.249+953_249+954delinsCT XP_024307267.1:n.249+953_249+954delinsCT
NM_024407.5:c.228+953_228+954delinsCT MANE Select NP_077718.3:n.228+953_228+954delinsCT
NM_001363602.2:c.228+953_228+954delinsCT NP_001350531.1:n.228+953_228+954delinsCT