Canonical Allele Identifier: CA631300606

Gene: NDUFS7

Linked Data

• dbSNP Id: rs1385465877
• gnomAD v2: 19-1391347-GAAC-G
• gnomAD v3: 19-1391348-GAAC-G
• gnomAD v4: 19-1391348-GAAC-G
• MyVariant Identifiers: chr19:g.1391348_1391350del (hg19) ; chr19:g.1391349_1391351del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1391349_1391351del , CM000681.2:g.1391349_1391351del	GRCh38
NC_000019.9:g.1391348_1391350del , CM000681.1:g.1391348_1391350del	GRCh37
NC_000019.8:g.1342348_1342350del	NCBI36
NG_008283.1:g.12466_12468del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233627.14:c.455+184_455+186del MANE Select	ENSP00000233627.9:n.455+184_455+186del
ENST00000233627.13:c.455+184_455+186del	ENSP00000233627.9:n.455+184_455+186del
ENST00000313408.11:c.455+184_455+186del	ENSP00000364262.5:n.455+184_455+186del
ENST00000414651.3:c.545+184_545+186del	ENSP00000406630.2:n.545+184_545+186del
ENST00000436115.6:n.2410+184_2410+186del
ENST00000534853.5:c.*249+184_*249+186del	ENSP00000442822.1:n.*249+184_*249+186del
ENST00000535382.1:n.707+184_707+186del
ENST00000538523.5:n.511+184_511+186del
ENST00000538662.5:n.550+184_550+186del
ENST00000538929.5:n.545+184_545+186del
ENST00000539480.5:c.455+184_455+186del	ENSP00000443273.1:n.455+184_455+186del
ENST00000540530.5:n.446+184_446+186del
ENST00000543289.5:n.1013+184_1013+186del
ENST00000545446.5:n.746+184_746+186del
ENST00000546172.7:c.*451+184_*451+186del	ENSP00000467094.1:n.*451+184_*451+186del
ENST00000546283.5:c.455+184_455+186del	ENSP00000440348.1:n.455+184_455+186del
ENST00000618074.4:c.462+184_462+186del	ENSP00000477895.1:n.462+184_462+186del
ENST00000620479.4:c.459+184_459+186del	ENSP00000480984.1:n.459+184_459+186del
ENST00000622587.4:n.519+184_519+186del
NM_024407.4:c.455+184_455+186del	NP_077718.3:n.455+184_455+186del
XM_005259556.3:c.455+184_455+186del	XP_005259613.2:n.455+184_455+186del
NM_001363602.1:c.455+184_455+186del	NP_001350531.1:n.455+184_455+186del
XM_024451499.1:c.476+184_476+186del	XP_024307267.1:n.476+184_476+186del
NM_024407.5:c.455+184_455+186del MANE Select	NP_077718.3:n.455+184_455+186del
NM_001363602.2:c.455+184_455+186del	NP_001350531.1:n.455+184_455+186del