Canonical Allele Identifier: CA2317693497
Gene: NDUFS7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1389112_1389122delinsCCACACGCACA , CM000681.2:g.1389112_1389122delinsCCACACGCACA GRCh38
NC_000019.9:g.1389111_1389121delinsCCACACGCACA , CM000681.1:g.1389111_1389121delinsCCACACGCACA GRCh37
NC_000019.8:g.1340111_1340121delinsCCACACGCACA NCBI36
NG_008283.1:g.10229_10239delinsCCACACGCACA

Transcript Alleles

HGVS Amino-acid Change
ENST00000233627.14:c.228+174_228+184delinsCCACACGCACA MANE Select ENSP00000233627.9:n.228+174_228+184delinsCCACACGCACA
ENST00000233627.13:c.228+174_228+184delinsCCACACGCACA ENSP00000233627.9:n.228+174_228+184delinsCCACACGCACA
ENST00000313408.11:c.228+174_228+184delinsCCACACGCACA ENSP00000364262.5:n.228+174_228+184delinsCCACACGCACA
ENST00000414651.3:c.318+174_318+184delinsCCACACGCACA ENSP00000406630.2:n.318+174_318+184delinsCCACACGCACA
ENST00000436115.6:n.425_435delinsCCACACGCACA
ENST00000534853.5:c.*22+174_*22+184delinsCCACACGCACA ENSP00000442822.1:n.*22+174_*22+184delinsCCACACGCACA
ENST00000535382.1:n.480+174_480+184delinsCCACACGCACA
ENST00000538523.5:n.284+174_284+184delinsCCACACGCACA
ENST00000538662.5:n.255+174_255+184delinsCCACACGCACA
ENST00000538929.5:n.318+174_318+184delinsCCACACGCACA
ENST00000539480.5:c.228+174_228+184delinsCCACACGCACA ENSP00000443273.1:n.228+174_228+184delinsCCACACGCACA
ENST00000540530.5:n.219+174_219+184delinsCCACACGCACA
ENST00000543289.5:n.718+174_718+184delinsCCACACGCACA
ENST00000545446.5:n.519+174_519+184delinsCCACACGCACA
ENST00000546172.7:c.*224+174_*224+184delinsCCACACGCACA ENSP00000467094.1:n.*224+174_*224+184delinsCCACACGCACA
ENST00000546283.5:c.228+174_228+184delinsCCACACGCACA ENSP00000440348.1:n.228+174_228+184delinsCCACACGCACA
ENST00000618074.4:c.228+174_228+184delinsCCACACGCACA ENSP00000477895.1:n.228+174_228+184delinsCCACACGCACA
ENST00000620479.4:c.228+174_228+184delinsCCACACGCACA ENSP00000480984.1:n.228+174_228+184delinsCCACACGCACA
ENST00000622587.4:n.224+174_224+184delinsCCACACGCACA
NM_024407.4:c.228+174_228+184delinsCCACACGCACA NP_077718.3:n.228+174_228+184delinsCCACACGCACA
XM_005259556.3:c.228+174_228+184delinsCCACACGCACA XP_005259613.2:n.228+174_228+184delinsCCACACGCACA
NM_001363602.1:c.228+174_228+184delinsCCACACGCACA NP_001350531.1:n.228+174_228+184delinsCCACACGCACA
XM_017026768.2:c.402_412delinsCCACACGCACA XP_016882257.2:p.Asp134=
XM_024451499.1:c.249+174_249+184delinsCCACACGCACA XP_024307267.1:n.249+174_249+184delinsCCACACGCACA
NM_024407.5:c.228+174_228+184delinsCCACACGCACA MANE Select NP_077718.3:n.228+174_228+184delinsCCACACGCACA
NM_001363602.2:c.228+174_228+184delinsCCACACGCACA NP_001350531.1:n.228+174_228+184delinsCCACACGCACA