Canonical Allele Identifier: CA2317695101
Gene: NDUFS7 HGNC NCBI

Linked Data

dbSNP Id: rs956381725

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1391482_1391485del , CM000681.2:g.1391482_1391485del GRCh38
NC_000019.9:g.1391481_1391484del , CM000681.1:g.1391481_1391484del GRCh37
NC_000019.8:g.1342481_1342484del NCBI36
NG_008283.1:g.12599_12602del

Transcript Alleles

HGVS Amino-acid Change
ENST00000233627.14:c.455+317_455+320del MANE Select ENSP00000233627.9:n.455+317_455+320del
ENST00000233627.13:c.455+317_455+320del ENSP00000233627.9:n.455+317_455+320del
ENST00000313408.11:c.455+317_455+320del ENSP00000364262.5:n.455+317_455+320del
ENST00000414651.3:c.545+317_545+320del ENSP00000406630.2:n.545+317_545+320del
ENST00000436115.6:n.2410+317_2410+320del
ENST00000534853.5:c.*249+317_*249+320del ENSP00000442822.1:n.*249+317_*249+320del
ENST00000535382.1:n.707+317_707+320del
ENST00000538523.5:n.511+317_511+320del
ENST00000538662.5:n.550+317_550+320del
ENST00000538929.5:n.545+317_545+320del
ENST00000539480.5:c.455+317_455+320del ENSP00000443273.1:n.455+317_455+320del
ENST00000540530.5:n.446+317_446+320del
ENST00000543289.5:n.1013+317_1013+320del
ENST00000545446.5:n.746+317_746+320del
ENST00000546172.7:c.*451+317_*451+320del ENSP00000467094.1:n.*451+317_*451+320del
ENST00000546283.5:c.455+317_455+320del ENSP00000440348.1:n.455+317_455+320del
ENST00000618074.4:c.462+317_462+320del ENSP00000477895.1:n.462+317_462+320del
ENST00000620479.4:c.459+317_459+320del ENSP00000480984.1:n.459+317_459+320del
ENST00000622587.4:n.519+317_519+320del
NM_024407.4:c.455+317_455+320del NP_077718.3:n.455+317_455+320del
XM_005259556.3:c.455+317_455+320del XP_005259613.2:n.455+317_455+320del
NM_001363602.1:c.455+317_455+320del NP_001350531.1:n.455+317_455+320del
XM_024451499.1:c.476+317_476+320del XP_024307267.1:n.476+317_476+320del
NM_024407.5:c.455+317_455+320del MANE Select NP_077718.3:n.455+317_455+320del
NM_001363602.2:c.455+317_455+320del NP_001350531.1:n.455+317_455+320del