Canonical Allele Identifier: CA2582636067

Gene: NDUFS7

Linked Data

• gnomAD v4: 19-1389048-CATGCACACTCACATGCGCACATGTGCATGCAAGCTCACATGTATGGACAGATGTGTACACGGACCACACGCACACTCACGCACACAATGCACAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1389059_1389152del , CM000681.2:g.1389059_1389152del	GRCh38
NC_000019.9:g.1389058_1389151del , CM000681.1:g.1389058_1389151del	GRCh37
NC_000019.8:g.1340058_1340151del	NCBI36
NG_008283.1:g.10176_10269del

Transcript Alleles

HGVS	Amino-acid change
ENST00000233627.14:c.228+121_228+214del MANE Select	ENSP00000233627.9:n.228+121_228+214del
ENST00000233627.13:c.228+121_228+214del	ENSP00000233627.9:n.228+121_228+214del
ENST00000313408.11:c.228+121_228+214del	ENSP00000364262.5:n.228+121_228+214del
ENST00000414651.3:c.318+121_318+214del	ENSP00000406630.2:n.318+121_318+214del
ENST00000436115.6:n.372_465del
ENST00000534853.5:c.*22+121_*22+214del	ENSP00000442822.1:n.*22+121_*22+214del
ENST00000535382.1:n.480+121_480+214del
ENST00000538523.5:n.284+121_284+214del
ENST00000538662.5:n.255+121_255+214del
ENST00000538929.5:n.318+121_318+214del
ENST00000539480.5:c.228+121_228+214del	ENSP00000443273.1:n.228+121_228+214del
ENST00000540530.5:n.219+121_219+214del
ENST00000543289.5:n.718+121_718+214del
ENST00000545446.5:n.519+121_519+214del
ENST00000546172.7:c.*224+121_*224+214del	ENSP00000467094.1:n.*224+121_*224+214del
ENST00000546283.5:c.228+121_228+214del	ENSP00000440348.1:n.228+121_228+214del
ENST00000618074.4:c.228+121_228+214del	ENSP00000477895.1:n.228+121_228+214del
ENST00000620479.4:c.228+121_228+214del	ENSP00000480984.1:n.228+121_228+214del
ENST00000622587.4:n.224+121_224+214del
NM_024407.4:c.228+121_228+214del	NP_077718.3:n.228+121_228+214del
XM_005259556.3:c.228+121_228+214del	XP_005259613.2:n.228+121_228+214del
NM_001363602.1:c.228+121_228+214del	NP_001350531.1:n.228+121_228+214del
XM_017026768.2:c.349_442del	XP_016882257.2:p.Thr117AlafsTer?
XM_024451499.1:c.249+121_249+214del	XP_024307267.1:n.249+121_249+214del
NM_024407.5:c.228+121_228+214del MANE Select	NP_077718.3:n.228+121_228+214del
NM_001363602.2:c.228+121_228+214del	NP_001350531.1:n.228+121_228+214del