Canonical Allele Identifier: CA2582636350

Gene: NDUFS7

Linked Data

• gnomAD v4: 19-1389332-CACAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1389333_1389336del , CM000681.2:g.1389333_1389336del	GRCh38
NC_000019.9:g.1389332_1389335del , CM000681.1:g.1389332_1389335del	GRCh37
NC_000019.8:g.1340332_1340335del	NCBI36
NG_008283.1:g.10450_10453del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233627.14:c.228+395_228+398del MANE Select	ENSP00000233627.9:n.228+395_228+398del
ENST00000233627.13:c.228+395_228+398del	ENSP00000233627.9:n.228+395_228+398del
ENST00000313408.11:c.228+395_228+398del	ENSP00000364262.5:n.228+395_228+398del
ENST00000414651.3:c.318+395_318+398del	ENSP00000406630.2:n.318+395_318+398del
ENST00000436115.6:n.646_649del
ENST00000534853.5:c.*22+395_*22+398del	ENSP00000442822.1:n.*22+395_*22+398del
ENST00000535382.1:n.480+395_480+398del
ENST00000538523.5:n.284+395_284+398del
ENST00000538662.5:n.255+395_255+398del
ENST00000538929.5:n.318+395_318+398del
ENST00000539480.5:c.228+395_228+398del	ENSP00000443273.1:n.228+395_228+398del
ENST00000540530.5:n.219+395_219+398del
ENST00000543289.5:n.718+395_718+398del
ENST00000545446.5:n.519+395_519+398del
ENST00000546172.7:c.*224+395_*224+398del	ENSP00000467094.1:n.*224+395_*224+398del
ENST00000546283.5:c.228+395_228+398del	ENSP00000440348.1:n.228+395_228+398del
ENST00000618074.4:c.228+395_228+398del	ENSP00000477895.1:n.228+395_228+398del
ENST00000620479.4:c.228+395_228+398del	ENSP00000480984.1:n.228+395_228+398del
ENST00000622587.4:n.224+395_224+398del
NM_024407.4:c.228+395_228+398del	NP_077718.3:n.228+395_228+398del
XM_005259556.3:c.228+395_228+398del	XP_005259613.2:n.228+395_228+398del
NM_001363602.1:c.228+395_228+398del	NP_001350531.1:n.228+395_228+398del
XM_017026768.2:c.623_626del	XP_016882257.2:p.His208ArgfsTer24
XM_024451499.1:c.249+395_249+398del	XP_024307267.1:n.249+395_249+398del
NM_024407.5:c.228+395_228+398del MANE Select	NP_077718.3:n.228+395_228+398del
NM_001363602.2:c.228+395_228+398del	NP_001350531.1:n.228+395_228+398del