Canonical Allele Identifier: CA2317695104
Gene: NDUFS7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1391481_1391486delinsTTTTTC , CM000681.2:g.1391481_1391486delinsTTTTTC GRCh38
NC_000019.9:g.1391480_1391485delinsTTTTTC , CM000681.1:g.1391480_1391485delinsTTTTTC GRCh37
NC_000019.8:g.1342480_1342485delinsTTTTTC NCBI36
NG_008283.1:g.12598_12603delinsTTTTTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000233627.14:c.455+316_455+321delinsTTTTTC MANE Select ENSP00000233627.9:n.455+316_455+321delinsTTTTTC
ENST00000233627.13:c.455+316_455+321delinsTTTTTC ENSP00000233627.9:n.455+316_455+321delinsTTTTTC
ENST00000313408.11:c.455+316_455+321delinsTTTTTC ENSP00000364262.5:n.455+316_455+321delinsTTTTTC
ENST00000414651.3:c.545+316_545+321delinsTTTTTC ENSP00000406630.2:n.545+316_545+321delinsTTTTTC
ENST00000436115.6:n.2410+316_2410+321delinsTTTTTC
ENST00000534853.5:c.*249+316_*249+321delinsTTTTTC ENSP00000442822.1:n.*249+316_*249+321delinsTTTTTC
ENST00000535382.1:n.707+316_707+321delinsTTTTTC
ENST00000538523.5:n.511+316_511+321delinsTTTTTC
ENST00000538662.5:n.550+316_550+321delinsTTTTTC
ENST00000538929.5:n.545+316_545+321delinsTTTTTC
ENST00000539480.5:c.455+316_455+321delinsTTTTTC ENSP00000443273.1:n.455+316_455+321delinsTTTTTC
ENST00000540530.5:n.446+316_446+321delinsTTTTTC
ENST00000543289.5:n.1013+316_1013+321delinsTTTTTC
ENST00000545446.5:n.746+316_746+321delinsTTTTTC
ENST00000546172.7:c.*451+316_*451+321delinsTTTTTC ENSP00000467094.1:n.*451+316_*451+321delinsTTTTTC
ENST00000546283.5:c.455+316_455+321delinsTTTTTC ENSP00000440348.1:n.455+316_455+321delinsTTTTTC
ENST00000618074.4:c.462+316_462+321delinsTTTTTC ENSP00000477895.1:n.462+316_462+321delinsTTTTTC
ENST00000620479.4:c.459+316_459+321delinsTTTTTC ENSP00000480984.1:n.459+316_459+321delinsTTTTTC
ENST00000622587.4:n.519+316_519+321delinsTTTTTC
NM_024407.4:c.455+316_455+321delinsTTTTTC NP_077718.3:n.455+316_455+321delinsTTTTTC
XM_005259556.3:c.455+316_455+321delinsTTTTTC XP_005259613.2:n.455+316_455+321delinsTTTTTC
NM_001363602.1:c.455+316_455+321delinsTTTTTC NP_001350531.1:n.455+316_455+321delinsTTTTTC
XM_024451499.1:c.476+316_476+321delinsTTTTTC XP_024307267.1:n.476+316_476+321delinsTTTTTC
NM_024407.5:c.455+316_455+321delinsTTTTTC MANE Select NP_077718.3:n.455+316_455+321delinsTTTTTC
NM_001363602.2:c.455+316_455+321delinsTTTTTC NP_001350531.1:n.455+316_455+321delinsTTTTTC