Canonical Allele Identifier: CA2582636253

Gene: NDUFS7

Linked Data

• gnomAD v4: 19-1389216-TACACACATGCACACTTGCACTCATGCACACTCATGCGCACATATACACATGCACACGCACACTCGCACACACGTGCACATATATGCACAGTCATGCACACACATGCACACTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1389231_1389342del , CM000681.2:g.1389231_1389342del	GRCh38
NC_000019.9:g.1389230_1389341del , CM000681.1:g.1389230_1389341del	GRCh37
NC_000019.8:g.1340230_1340341del	NCBI36
NG_008283.1:g.10348_10459del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233627.14:c.228+293_228+404del MANE Select	ENSP00000233627.9:n.228+293_228+404del
ENST00000233627.13:c.228+293_228+404del	ENSP00000233627.9:n.228+293_228+404del
ENST00000313408.11:c.228+293_228+404del	ENSP00000364262.5:n.228+293_228+404del
ENST00000414651.3:c.318+293_318+404del	ENSP00000406630.2:n.318+293_318+404del
ENST00000436115.6:n.544_655del
ENST00000534853.5:c.*22+293_*22+404del	ENSP00000442822.1:n.*22+293_*22+404del
ENST00000535382.1:n.480+293_480+404del
ENST00000538523.5:n.284+293_284+404del
ENST00000538662.5:n.255+293_255+404del
ENST00000538929.5:n.318+293_318+404del
ENST00000539480.5:c.228+293_228+404del	ENSP00000443273.1:n.228+293_228+404del
ENST00000540530.5:n.219+293_219+404del
ENST00000543289.5:n.718+293_718+404del
ENST00000545446.5:n.519+293_519+404del
ENST00000546172.7:c.*224+293_*224+404del	ENSP00000467094.1:n.*224+293_*224+404del
ENST00000546283.5:c.228+293_228+404del	ENSP00000440348.1:n.228+293_228+404del
ENST00000618074.4:c.228+293_228+404del	ENSP00000477895.1:n.228+293_228+404del
ENST00000620479.4:c.228+293_228+404del	ENSP00000480984.1:n.228+293_228+404del
ENST00000622587.4:n.224+293_224+404del
NM_024407.4:c.228+293_228+404del	NP_077718.3:n.228+293_228+404del
XM_005259556.3:c.228+293_228+404del	XP_005259613.2:n.228+293_228+404del
NM_001363602.1:c.228+293_228+404del	NP_001350531.1:n.228+293_228+404del
XM_017026768.2:c.521_632del	XP_016882257.2:p.Leu174HisfsTer22
XM_024451499.1:c.249+293_249+404del	XP_024307267.1:n.249+293_249+404del
NM_024407.5:c.228+293_228+404del MANE Select	NP_077718.3:n.228+293_228+404del
NM_001363602.2:c.228+293_228+404del	NP_001350531.1:n.228+293_228+404del