Canonical Allele Identifier: CA2317694095
Gene: NDUFS7 HGNC NCBI

Linked Data

dbSNP Id: rs2082541833

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1389762_1389764del , CM000681.2:g.1389762_1389764del GRCh38
NC_000019.9:g.1389761_1389763del , CM000681.1:g.1389761_1389763del GRCh37
NC_000019.8:g.1340761_1340763del NCBI36
NG_008283.1:g.10879_10881del

Transcript Alleles

HGVS Amino-acid Change
ENST00000233627.14:c.228+824_228+826del MANE Select ENSP00000233627.9:n.228+824_228+826del
ENST00000233627.13:c.228+824_228+826del ENSP00000233627.9:n.228+824_228+826del
ENST00000313408.11:c.228+824_228+826del ENSP00000364262.5:n.228+824_228+826del
ENST00000414651.3:c.318+824_318+826del ENSP00000406630.2:n.318+824_318+826del
ENST00000436115.6:n.1075_1077del
ENST00000534853.5:c.*22+824_*22+826del ENSP00000442822.1:n.*22+824_*22+826del
ENST00000535382.1:n.480+824_480+826del
ENST00000538523.5:n.284+824_284+826del
ENST00000538662.5:n.255+824_255+826del
ENST00000538929.5:n.318+824_318+826del
ENST00000539480.5:c.228+824_228+826del ENSP00000443273.1:n.228+824_228+826del
ENST00000540530.5:n.219+824_219+826del
ENST00000543289.5:n.718+824_718+826del
ENST00000545446.5:n.519+824_519+826del
ENST00000546172.7:c.*224+824_*224+826del ENSP00000467094.1:n.*224+824_*224+826del
ENST00000546283.5:c.228+824_228+826del ENSP00000440348.1:n.228+824_228+826del
ENST00000618074.4:c.228+824_228+826del ENSP00000477895.1:n.228+824_228+826del
ENST00000620479.4:c.228+824_228+826del ENSP00000480984.1:n.228+824_228+826del
ENST00000622587.4:n.224+824_224+826del
NM_024407.4:c.228+824_228+826del NP_077718.3:n.228+824_228+826del
XM_005259556.3:c.228+824_228+826del XP_005259613.2:n.228+824_228+826del
NM_001363602.1:c.228+824_228+826del NP_001350531.1:n.228+824_228+826del
XM_024451499.1:c.249+824_249+826del XP_024307267.1:n.249+824_249+826del
NM_024407.5:c.228+824_228+826del MANE Select NP_077718.3:n.228+824_228+826del
NM_001363602.2:c.228+824_228+826del NP_001350531.1:n.228+824_228+826del