Canonical Allele Identifier: CA2317694162
Gene: NDUFS7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1389883_1389894delinsGTTCTTTTCTTT , CM000681.2:g.1389883_1389894delinsGTTCTTTTCTTT GRCh38
NC_000019.9:g.1389882_1389893delinsGTTCTTTTCTTT , CM000681.1:g.1389882_1389893delinsGTTCTTTTCTTT GRCh37
NC_000019.8:g.1340882_1340893delinsGTTCTTTTCTTT NCBI36
NG_008283.1:g.11000_11011delinsGTTCTTTTCTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000233627.14:c.228+945_228+956delinsGTTCTTTTCTTT MANE Select ENSP00000233627.9:n.228+945_228+956delinsGTTCTTTTCTTT
ENST00000233627.13:c.228+945_228+956delinsGTTCTTTTCTTT ENSP00000233627.9:n.228+945_228+956delinsGTTCTTTTCTTT
ENST00000313408.11:c.228+945_228+956delinsGTTCTTTTCTTT ENSP00000364262.5:n.228+945_228+956delinsGTTCTTTTCTTT
ENST00000414651.3:c.318+945_318+956delinsGTTCTTTTCTTT ENSP00000406630.2:n.318+945_318+956delinsGTTCTTTTCTTT
ENST00000436115.6:n.1196_1207delinsGTTCTTTTCTTT
ENST00000534853.5:c.*22+945_*22+956delinsGTTCTTTTCTTT ENSP00000442822.1:n.*22+945_*22+956delinsGTTCTTTTCTTT
ENST00000535382.1:n.480+945_480+956delinsGTTCTTTTCTTT
ENST00000538523.5:n.284+945_284+956delinsGTTCTTTTCTTT
ENST00000538662.5:n.255+945_255+956delinsGTTCTTTTCTTT
ENST00000538929.5:n.318+945_318+956delinsGTTCTTTTCTTT
ENST00000539480.5:c.228+945_228+956delinsGTTCTTTTCTTT ENSP00000443273.1:n.228+945_228+956delinsGTTCTTTTCTTT
ENST00000540530.5:n.219+945_219+956delinsGTTCTTTTCTTT
ENST00000543289.5:n.718+945_718+956delinsGTTCTTTTCTTT
ENST00000545446.5:n.519+945_519+956delinsGTTCTTTTCTTT
ENST00000546172.7:c.*224+945_*224+956delinsGTTCTTTTCTTT ENSP00000467094.1:n.*224+945_*224+956delinsGTTCTTTTCTTT
ENST00000546283.5:c.228+945_228+956delinsGTTCTTTTCTTT ENSP00000440348.1:n.228+945_228+956delinsGTTCTTTTCTTT
ENST00000618074.4:c.228+945_228+956delinsGTTCTTTTCTTT ENSP00000477895.1:n.228+945_228+956delinsGTTCTTTTCTTT
ENST00000620479.4:c.228+945_228+956delinsGTTCTTTTCTTT ENSP00000480984.1:n.228+945_228+956delinsGTTCTTTTCTTT
ENST00000622587.4:n.224+945_224+956delinsGTTCTTTTCTTT
NM_024407.4:c.228+945_228+956delinsGTTCTTTTCTTT NP_077718.3:n.228+945_228+956delinsGTTCTTTTCTTT
XM_005259556.3:c.228+945_228+956delinsGTTCTTTTCTTT XP_005259613.2:n.228+945_228+956delinsGTTCTTTTCTTT
NM_001363602.1:c.228+945_228+956delinsGTTCTTTTCTTT NP_001350531.1:n.228+945_228+956delinsGTTCTTTTCTTT
XM_024451499.1:c.249+945_249+956delinsGTTCTTTTCTTT XP_024307267.1:n.249+945_249+956delinsGTTCTTTTCTTT
NM_024407.5:c.228+945_228+956delinsGTTCTTTTCTTT MANE Select NP_077718.3:n.228+945_228+956delinsGTTCTTTTCTTT
NM_001363602.2:c.228+945_228+956delinsGTTCTTTTCTTT NP_001350531.1:n.228+945_228+956delinsGTTCTTTTCTTT