Canonical Allele Identifier: CA2582636041

Gene: NDUFS7

Linked Data

• gnomAD v4: 19-1389036-ACAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1389037_1389039del , CM000681.2:g.1389037_1389039del	GRCh38
NC_000019.9:g.1389036_1389038del , CM000681.1:g.1389036_1389038del	GRCh37
NC_000019.8:g.1340036_1340038del	NCBI36
NG_008283.1:g.10154_10156del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233627.14:c.228+99_228+101del MANE Select	ENSP00000233627.9:n.228+99_228+101del
ENST00000233627.13:c.228+99_228+101del	ENSP00000233627.9:n.228+99_228+101del
ENST00000313408.11:c.228+99_228+101del	ENSP00000364262.5:n.228+99_228+101del
ENST00000414651.3:c.318+99_318+101del	ENSP00000406630.2:n.318+99_318+101del
ENST00000436115.6:n.350_352del
ENST00000534853.5:c.*22+99_*22+101del	ENSP00000442822.1:n.*22+99_*22+101del
ENST00000535382.1:n.480+99_480+101del
ENST00000538523.5:n.284+99_284+101del
ENST00000538662.5:n.255+99_255+101del
ENST00000538929.5:n.318+99_318+101del
ENST00000539480.5:c.228+99_228+101del	ENSP00000443273.1:n.228+99_228+101del
ENST00000540530.5:n.219+99_219+101del
ENST00000543289.5:n.718+99_718+101del
ENST00000545446.5:n.519+99_519+101del
ENST00000546172.7:c.*224+99_*224+101del	ENSP00000467094.1:n.*224+99_*224+101del
ENST00000546283.5:c.228+99_228+101del	ENSP00000440348.1:n.228+99_228+101del
ENST00000618074.4:c.228+99_228+101del	ENSP00000477895.1:n.228+99_228+101del
ENST00000620479.4:c.228+99_228+101del	ENSP00000480984.1:n.228+99_228+101del
ENST00000622587.4:n.224+99_224+101del
NM_024407.4:c.228+99_228+101del	NP_077718.3:n.228+99_228+101del
XM_005259556.3:c.228+99_228+101del	XP_005259613.2:n.228+99_228+101del
NM_001363602.1:c.228+99_228+101del	NP_001350531.1:n.228+99_228+101del
XM_017026768.2:c.327_329del	XP_016882257.2:p.His109_Thr110delinsGln
XM_024451499.1:c.249+99_249+101del	XP_024307267.1:n.249+99_249+101del
NM_024407.5:c.228+99_228+101del MANE Select	NP_077718.3:n.228+99_228+101del
NM_001363602.2:c.228+99_228+101del	NP_001350531.1:n.228+99_228+101del