Canonical Allele Identifier: CA631300719
Gene: NDUFS7 HGNC NCBI

Linked Data

dbSNP Id: rs1600147426

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1389007_1389008del , CM000681.2:g.1389007_1389008del GRCh38
NC_000019.9:g.1389006_1389007del , CM000681.1:g.1389006_1389007del GRCh37
NC_000019.8:g.1340006_1340007del NCBI36
NG_008283.1:g.10124_10125del

Transcript Alleles

HGVS Amino-acid Change
ENST00000233627.14:c.228+69_228+70del MANE Select ENSP00000233627.9:n.228+69_228+70del
ENST00000233627.13:c.228+69_228+70del ENSP00000233627.9:n.228+69_228+70del
ENST00000313408.11:c.228+69_228+70del ENSP00000364262.5:n.228+69_228+70del
ENST00000414651.3:c.318+69_318+70del ENSP00000406630.2:n.318+69_318+70del
ENST00000436115.6:n.320_321del
ENST00000534853.5:c.*22+69_*22+70del ENSP00000442822.1:n.*22+69_*22+70del
ENST00000535382.1:n.480+69_480+70del
ENST00000538523.5:n.284+69_284+70del
ENST00000538662.5:n.255+69_255+70del
ENST00000538929.5:n.318+69_318+70del
ENST00000539480.5:c.228+69_228+70del ENSP00000443273.1:n.228+69_228+70del
ENST00000540530.5:n.219+69_219+70del
ENST00000543289.5:n.718+69_718+70del
ENST00000545446.5:n.519+69_519+70del
ENST00000546172.7:c.*224+69_*224+70del ENSP00000467094.1:n.*224+69_*224+70del
ENST00000546283.5:c.228+69_228+70del ENSP00000440348.1:n.228+69_228+70del
ENST00000618074.4:c.228+69_228+70del ENSP00000477895.1:n.228+69_228+70del
ENST00000620479.4:c.228+69_228+70del ENSP00000480984.1:n.228+69_228+70del
ENST00000622587.4:n.224+69_224+70del
NM_024407.4:c.228+69_228+70del NP_077718.3:n.228+69_228+70del
XM_005259556.3:c.228+69_228+70del XP_005259613.2:n.228+69_228+70del
NM_001363602.1:c.228+69_228+70del NP_001350531.1:n.228+69_228+70del
XM_017026768.2:c.297_298del XP_016882257.2:p.Thr102GlnfsTer?
XM_024451499.1:c.249+69_249+70del XP_024307267.1:n.249+69_249+70del
NM_024407.5:c.228+69_228+70del MANE Select NP_077718.3:n.228+69_228+70del
NM_001363602.2:c.228+69_228+70del NP_001350531.1:n.228+69_228+70del