Canonical Allele Identifier: CA2317695078
Gene: NDUFS7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1391440_1391446delinsGATAGTT , CM000681.2:g.1391440_1391446delinsGATAGTT GRCh38
NC_000019.9:g.1391439_1391445delinsGATAGTT , CM000681.1:g.1391439_1391445delinsGATAGTT GRCh37
NC_000019.8:g.1342439_1342445delinsGATAGTT NCBI36
NG_008283.1:g.12557_12563delinsGATAGTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000233627.14:c.455+275_455+281delinsGATAGTT MANE Select ENSP00000233627.9:n.455+275_455+281delinsGATAGTT
ENST00000233627.13:c.455+275_455+281delinsGATAGTT ENSP00000233627.9:n.455+275_455+281delinsGATAGTT
ENST00000313408.11:c.455+275_455+281delinsGATAGTT ENSP00000364262.5:n.455+275_455+281delinsGATAGTT
ENST00000414651.3:c.545+275_545+281delinsGATAGTT ENSP00000406630.2:n.545+275_545+281delinsGATAGTT
ENST00000436115.6:n.2410+275_2410+281delinsGATAGTT
ENST00000534853.5:c.*249+275_*249+281delinsGATAGTT ENSP00000442822.1:n.*249+275_*249+281delinsGATAGTT
ENST00000535382.1:n.707+275_707+281delinsGATAGTT
ENST00000538523.5:n.511+275_511+281delinsGATAGTT
ENST00000538662.5:n.550+275_550+281delinsGATAGTT
ENST00000538929.5:n.545+275_545+281delinsGATAGTT
ENST00000539480.5:c.455+275_455+281delinsGATAGTT ENSP00000443273.1:n.455+275_455+281delinsGATAGTT
ENST00000540530.5:n.446+275_446+281delinsGATAGTT
ENST00000543289.5:n.1013+275_1013+281delinsGATAGTT
ENST00000545446.5:n.746+275_746+281delinsGATAGTT
ENST00000546172.7:c.*451+275_*451+281delinsGATAGTT ENSP00000467094.1:n.*451+275_*451+281delinsGATAGTT
ENST00000546283.5:c.455+275_455+281delinsGATAGTT ENSP00000440348.1:n.455+275_455+281delinsGATAGTT
ENST00000618074.4:c.462+275_462+281delinsGATAGTT ENSP00000477895.1:n.462+275_462+281delinsGATAGTT
ENST00000620479.4:c.459+275_459+281delinsGATAGTT ENSP00000480984.1:n.459+275_459+281delinsGATAGTT
ENST00000622587.4:n.519+275_519+281delinsGATAGTT
NM_024407.4:c.455+275_455+281delinsGATAGTT NP_077718.3:n.455+275_455+281delinsGATAGTT
XM_005259556.3:c.455+275_455+281delinsGATAGTT XP_005259613.2:n.455+275_455+281delinsGATAGTT
NM_001363602.1:c.455+275_455+281delinsGATAGTT NP_001350531.1:n.455+275_455+281delinsGATAGTT
XM_024451499.1:c.476+275_476+281delinsGATAGTT XP_024307267.1:n.476+275_476+281delinsGATAGTT
NM_024407.5:c.455+275_455+281delinsGATAGTT MANE Select NP_077718.3:n.455+275_455+281delinsGATAGTT
NM_001363602.2:c.455+275_455+281delinsGATAGTT NP_001350531.1:n.455+275_455+281delinsGATAGTT