Canonical Allele Identifier: CA2317695079
Gene: NDUFS7 HGNC NCBI

Linked Data

dbSNP Id: rs2082556887

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1391441_1391446del , CM000681.2:g.1391441_1391446del GRCh38
NC_000019.9:g.1391440_1391445del , CM000681.1:g.1391440_1391445del GRCh37
NC_000019.8:g.1342440_1342445del NCBI36
NG_008283.1:g.12558_12563del

Transcript Alleles

HGVS Amino-acid Change
ENST00000233627.14:c.455+276_455+281del MANE Select ENSP00000233627.9:n.455+276_455+281del
ENST00000233627.13:c.455+276_455+281del ENSP00000233627.9:n.455+276_455+281del
ENST00000313408.11:c.455+276_455+281del ENSP00000364262.5:n.455+276_455+281del
ENST00000414651.3:c.545+276_545+281del ENSP00000406630.2:n.545+276_545+281del
ENST00000436115.6:n.2410+276_2410+281del
ENST00000534853.5:c.*249+276_*249+281del ENSP00000442822.1:n.*249+276_*249+281del
ENST00000535382.1:n.707+276_707+281del
ENST00000538523.5:n.511+276_511+281del
ENST00000538662.5:n.550+276_550+281del
ENST00000538929.5:n.545+276_545+281del
ENST00000539480.5:c.455+276_455+281del ENSP00000443273.1:n.455+276_455+281del
ENST00000540530.5:n.446+276_446+281del
ENST00000543289.5:n.1013+276_1013+281del
ENST00000545446.5:n.746+276_746+281del
ENST00000546172.7:c.*451+276_*451+281del ENSP00000467094.1:n.*451+276_*451+281del
ENST00000546283.5:c.455+276_455+281del ENSP00000440348.1:n.455+276_455+281del
ENST00000618074.4:c.462+276_462+281del ENSP00000477895.1:n.462+276_462+281del
ENST00000620479.4:c.459+276_459+281del ENSP00000480984.1:n.459+276_459+281del
ENST00000622587.4:n.519+276_519+281del
NM_024407.4:c.455+276_455+281del NP_077718.3:n.455+276_455+281del
XM_005259556.3:c.455+276_455+281del XP_005259613.2:n.455+276_455+281del
NM_001363602.1:c.455+276_455+281del NP_001350531.1:n.455+276_455+281del
XM_024451499.1:c.476+276_476+281del XP_024307267.1:n.476+276_476+281del
NM_024407.5:c.455+276_455+281del MANE Select NP_077718.3:n.455+276_455+281del
NM_001363602.2:c.455+276_455+281del NP_001350531.1:n.455+276_455+281del