Canonical Allele Identifier: CA2317694172
Gene: NDUFS7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1389892_1389897delinsTTTTTC , CM000681.2:g.1389892_1389897delinsTTTTTC GRCh38
NC_000019.9:g.1389891_1389896delinsTTTTTC , CM000681.1:g.1389891_1389896delinsTTTTTC GRCh37
NC_000019.8:g.1340891_1340896delinsTTTTTC NCBI36
NG_008283.1:g.11009_11014delinsTTTTTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000233627.14:c.228+954_228+959delinsTTTTTC MANE Select ENSP00000233627.9:n.228+954_228+959delinsTTTTTC
ENST00000233627.13:c.228+954_228+959delinsTTTTTC ENSP00000233627.9:n.228+954_228+959delinsTTTTTC
ENST00000313408.11:c.228+954_228+959delinsTTTTTC ENSP00000364262.5:n.228+954_228+959delinsTTTTTC
ENST00000414651.3:c.318+954_318+959delinsTTTTTC ENSP00000406630.2:n.318+954_318+959delinsTTTTTC
ENST00000436115.6:n.1205_1210delinsTTTTTC
ENST00000534853.5:c.*22+954_*22+959delinsTTTTTC ENSP00000442822.1:n.*22+954_*22+959delinsTTTTTC
ENST00000535382.1:n.480+954_480+959delinsTTTTTC
ENST00000538523.5:n.284+954_284+959delinsTTTTTC
ENST00000538662.5:n.255+954_255+959delinsTTTTTC
ENST00000538929.5:n.318+954_318+959delinsTTTTTC
ENST00000539480.5:c.228+954_228+959delinsTTTTTC ENSP00000443273.1:n.228+954_228+959delinsTTTTTC
ENST00000540530.5:n.219+954_219+959delinsTTTTTC
ENST00000543289.5:n.718+954_718+959delinsTTTTTC
ENST00000545446.5:n.519+954_519+959delinsTTTTTC
ENST00000546172.7:c.*224+954_*224+959delinsTTTTTC ENSP00000467094.1:n.*224+954_*224+959delinsTTTTTC
ENST00000546283.5:c.228+954_228+959delinsTTTTTC ENSP00000440348.1:n.228+954_228+959delinsTTTTTC
ENST00000618074.4:c.228+954_228+959delinsTTTTTC ENSP00000477895.1:n.228+954_228+959delinsTTTTTC
ENST00000620479.4:c.228+954_228+959delinsTTTTTC ENSP00000480984.1:n.228+954_228+959delinsTTTTTC
ENST00000622587.4:n.224+954_224+959delinsTTTTTC
NM_024407.4:c.228+954_228+959delinsTTTTTC NP_077718.3:n.228+954_228+959delinsTTTTTC
XM_005259556.3:c.228+954_228+959delinsTTTTTC XP_005259613.2:n.228+954_228+959delinsTTTTTC
NM_001363602.1:c.228+954_228+959delinsTTTTTC NP_001350531.1:n.228+954_228+959delinsTTTTTC
XM_024451499.1:c.249+954_249+959delinsTTTTTC XP_024307267.1:n.249+954_249+959delinsTTTTTC
NM_024407.5:c.228+954_228+959delinsTTTTTC MANE Select NP_077718.3:n.228+954_228+959delinsTTTTTC
NM_001363602.2:c.228+954_228+959delinsTTTTTC NP_001350531.1:n.228+954_228+959delinsTTTTTC