Canonical Allele Identifier: CA2317693447
Gene: NDUFS7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1389053_1389057delinsACACT , CM000681.2:g.1389053_1389057delinsACACT GRCh38
NC_000019.9:g.1389052_1389056delinsACACT , CM000681.1:g.1389052_1389056delinsACACT GRCh37
NC_000019.8:g.1340052_1340056delinsACACT NCBI36
NG_008283.1:g.10170_10174delinsACACT

Transcript Alleles

HGVS Amino-acid Change
ENST00000233627.14:c.228+115_228+119delinsACACT MANE Select ENSP00000233627.9:n.228+115_228+119delinsACACT
ENST00000233627.13:c.228+115_228+119delinsACACT ENSP00000233627.9:n.228+115_228+119delinsACACT
ENST00000313408.11:c.228+115_228+119delinsACACT ENSP00000364262.5:n.228+115_228+119delinsACACT
ENST00000414651.3:c.318+115_318+119delinsACACT ENSP00000406630.2:n.318+115_318+119delinsACACT
ENST00000436115.6:n.366_370delinsACACT
ENST00000534853.5:c.*22+115_*22+119delinsACACT ENSP00000442822.1:n.*22+115_*22+119delinsACACT
ENST00000535382.1:n.480+115_480+119delinsACACT
ENST00000538523.5:n.284+115_284+119delinsACACT
ENST00000538662.5:n.255+115_255+119delinsACACT
ENST00000538929.5:n.318+115_318+119delinsACACT
ENST00000539480.5:c.228+115_228+119delinsACACT ENSP00000443273.1:n.228+115_228+119delinsACACT
ENST00000540530.5:n.219+115_219+119delinsACACT
ENST00000543289.5:n.718+115_718+119delinsACACT
ENST00000545446.5:n.519+115_519+119delinsACACT
ENST00000546172.7:c.*224+115_*224+119delinsACACT ENSP00000467094.1:n.*224+115_*224+119delinsACACT
ENST00000546283.5:c.228+115_228+119delinsACACT ENSP00000440348.1:n.228+115_228+119delinsACACT
ENST00000618074.4:c.228+115_228+119delinsACACT ENSP00000477895.1:n.228+115_228+119delinsACACT
ENST00000620479.4:c.228+115_228+119delinsACACT ENSP00000480984.1:n.228+115_228+119delinsACACT
ENST00000622587.4:n.224+115_224+119delinsACACT
NM_024407.4:c.228+115_228+119delinsACACT NP_077718.3:n.228+115_228+119delinsACACT
XM_005259556.3:c.228+115_228+119delinsACACT XP_005259613.2:n.228+115_228+119delinsACACT
NM_001363602.1:c.228+115_228+119delinsACACT NP_001350531.1:n.228+115_228+119delinsACACT
XM_017026768.2:c.343_347delinsACACT XP_016882257.2:p.Thr115=
XM_024451499.1:c.249+115_249+119delinsACACT XP_024307267.1:n.249+115_249+119delinsACACT
NM_024407.5:c.228+115_228+119delinsACACT MANE Select NP_077718.3:n.228+115_228+119delinsACACT
NM_001363602.2:c.228+115_228+119delinsACACT NP_001350531.1:n.228+115_228+119delinsACACT