Canonical Allele Identifier: CA920036164
Gene: NDUFS7 HGNC NCBI

Linked Data

dbSNP Id: rs1568994506

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1391504_1391512del , CM000681.2:g.1391504_1391512del GRCh38
NC_000019.9:g.1391503_1391511del , CM000681.1:g.1391503_1391511del GRCh37
NC_000019.8:g.1342503_1342511del NCBI36
NG_008283.1:g.12621_12629del

Transcript Alleles

HGVS Amino-acid Change
ENST00000233627.14:c.455+339_455+347del MANE Select ENSP00000233627.9:n.455+339_455+347del
ENST00000233627.13:c.455+339_455+347del ENSP00000233627.9:n.455+339_455+347del
ENST00000313408.11:c.455+339_455+347del ENSP00000364262.5:n.455+339_455+347del
ENST00000414651.3:c.545+339_545+347del ENSP00000406630.2:n.545+339_545+347del
ENST00000436115.6:n.2410+339_2410+347del
ENST00000534853.5:c.*249+339_*249+347del ENSP00000442822.1:n.*249+339_*249+347del
ENST00000535382.1:n.707+339_707+347del
ENST00000538523.5:n.511+339_511+347del
ENST00000538662.5:n.550+339_550+347del
ENST00000538929.5:n.545+339_545+347del
ENST00000539480.5:c.455+339_455+347del ENSP00000443273.1:n.455+339_455+347del
ENST00000540530.5:n.446+339_446+347del
ENST00000543289.5:n.1013+339_1013+347del
ENST00000545446.5:n.746+339_746+347del
ENST00000546172.7:c.*451+339_*451+347del ENSP00000467094.1:n.*451+339_*451+347del
ENST00000546283.5:c.455+339_455+347del ENSP00000440348.1:n.455+339_455+347del
ENST00000618074.4:c.462+339_462+347del ENSP00000477895.1:n.462+339_462+347del
ENST00000620479.4:c.459+339_459+347del ENSP00000480984.1:n.459+339_459+347del
ENST00000622587.4:n.519+339_519+347del
NM_024407.4:c.455+339_455+347del NP_077718.3:n.455+339_455+347del
XM_005259556.3:c.455+339_455+347del XP_005259613.2:n.455+339_455+347del
NM_001363602.1:c.455+339_455+347del NP_001350531.1:n.455+339_455+347del
XM_024451499.1:c.476+339_476+347del XP_024307267.1:n.476+339_476+347del
NM_024407.5:c.455+339_455+347del MANE Select NP_077718.3:n.455+339_455+347del
NM_001363602.2:c.455+339_455+347del NP_001350531.1:n.455+339_455+347del