Canonical Allele Identifier: CA2317693786
Gene: NDUFS7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1389315_1389327delinsACACATGCACACT , CM000681.2:g.1389315_1389327delinsACACATGCACACT GRCh38
NC_000019.9:g.1389314_1389326delinsACACATGCACACT , CM000681.1:g.1389314_1389326delinsACACATGCACACT GRCh37
NC_000019.8:g.1340314_1340326delinsACACATGCACACT NCBI36
NG_008283.1:g.10432_10444delinsACACATGCACACT

Transcript Alleles

HGVS Amino-acid Change
ENST00000233627.14:c.228+377_228+389delinsACACATGCACACT MANE Select ENSP00000233627.9:n.228+377_228+389delinsACACATGCACACT
ENST00000233627.13:c.228+377_228+389delinsACACATGCACACT ENSP00000233627.9:n.228+377_228+389delinsACACATGCACACT
ENST00000313408.11:c.228+377_228+389delinsACACATGCACACT ENSP00000364262.5:n.228+377_228+389delinsACACATGCACACT
ENST00000414651.3:c.318+377_318+389delinsACACATGCACACT ENSP00000406630.2:n.318+377_318+389delinsACACATGCACACT
ENST00000436115.6:n.628_640delinsACACATGCACACT
ENST00000534853.5:c.*22+377_*22+389delinsACACATGCACACT ENSP00000442822.1:n.*22+377_*22+389delinsACACATGCACACT
ENST00000535382.1:n.480+377_480+389delinsACACATGCACACT
ENST00000538523.5:n.284+377_284+389delinsACACATGCACACT
ENST00000538662.5:n.255+377_255+389delinsACACATGCACACT
ENST00000538929.5:n.318+377_318+389delinsACACATGCACACT
ENST00000539480.5:c.228+377_228+389delinsACACATGCACACT ENSP00000443273.1:n.228+377_228+389delinsACACATGCACACT
ENST00000540530.5:n.219+377_219+389delinsACACATGCACACT
ENST00000543289.5:n.718+377_718+389delinsACACATGCACACT
ENST00000545446.5:n.519+377_519+389delinsACACATGCACACT
ENST00000546172.7:c.*224+377_*224+389delinsACACATGCACACT ENSP00000467094.1:n.*224+377_*224+389delinsACACATGCACACT
ENST00000546283.5:c.228+377_228+389delinsACACATGCACACT ENSP00000440348.1:n.228+377_228+389delinsACACATGCACACT
ENST00000618074.4:c.228+377_228+389delinsACACATGCACACT ENSP00000477895.1:n.228+377_228+389delinsACACATGCACACT
ENST00000620479.4:c.228+377_228+389delinsACACATGCACACT ENSP00000480984.1:n.228+377_228+389delinsACACATGCACACT
ENST00000622587.4:n.224+377_224+389delinsACACATGCACACT
NM_024407.4:c.228+377_228+389delinsACACATGCACACT NP_077718.3:n.228+377_228+389delinsACACATGCACACT
XM_005259556.3:c.228+377_228+389delinsACACATGCACACT XP_005259613.2:n.228+377_228+389delinsACACATGCACACT
NM_001363602.1:c.228+377_228+389delinsACACATGCACACT NP_001350531.1:n.228+377_228+389delinsACACATGCACACT
XM_017026768.2:c.605_617delinsACACATGCACACT XP_016882257.2:p.His202=
XM_024451499.1:c.249+377_249+389delinsACACATGCACACT XP_024307267.1:n.249+377_249+389delinsACACATGCACACT
NM_024407.5:c.228+377_228+389delinsACACATGCACACT MANE Select NP_077718.3:n.228+377_228+389delinsACACATGCACACT
NM_001363602.2:c.228+377_228+389delinsACACATGCACACT NP_001350531.1:n.228+377_228+389delinsACACATGCACACT