Canonical Allele Identifier: CA2582636727

Gene: NDUFS7

Linked Data

• gnomAD v4: 19-1389883-GTTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1389886_1389888del , CM000681.2:g.1389886_1389888del	GRCh38
NC_000019.9:g.1389885_1389887del , CM000681.1:g.1389885_1389887del	GRCh37
NC_000019.8:g.1340885_1340887del	NCBI36
NG_008283.1:g.11003_11005del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233627.14:c.228+948_228+950del MANE Select	ENSP00000233627.9:n.228+948_228+950del
ENST00000233627.13:c.228+948_228+950del	ENSP00000233627.9:n.228+948_228+950del
ENST00000313408.11:c.228+948_228+950del	ENSP00000364262.5:n.228+948_228+950del
ENST00000414651.3:c.318+948_318+950del	ENSP00000406630.2:n.318+948_318+950del
ENST00000436115.6:n.1199_1201del
ENST00000534853.5:c.*22+948_*22+950del	ENSP00000442822.1:n.*22+948_*22+950del
ENST00000535382.1:n.480+948_480+950del
ENST00000538523.5:n.284+948_284+950del
ENST00000538662.5:n.255+948_255+950del
ENST00000538929.5:n.318+948_318+950del
ENST00000539480.5:c.228+948_228+950del	ENSP00000443273.1:n.228+948_228+950del
ENST00000540530.5:n.219+948_219+950del
ENST00000543289.5:n.718+948_718+950del
ENST00000545446.5:n.519+948_519+950del
ENST00000546172.7:c.*224+948_*224+950del	ENSP00000467094.1:n.*224+948_*224+950del
ENST00000546283.5:c.228+948_228+950del	ENSP00000440348.1:n.228+948_228+950del
ENST00000618074.4:c.228+948_228+950del	ENSP00000477895.1:n.228+948_228+950del
ENST00000620479.4:c.228+948_228+950del	ENSP00000480984.1:n.228+948_228+950del
ENST00000622587.4:n.224+948_224+950del
NM_024407.4:c.228+948_228+950del	NP_077718.3:n.228+948_228+950del
XM_005259556.3:c.228+948_228+950del	XP_005259613.2:n.228+948_228+950del
NM_001363602.1:c.228+948_228+950del	NP_001350531.1:n.228+948_228+950del
XM_024451499.1:c.249+948_249+950del	XP_024307267.1:n.249+948_249+950del
NM_024407.5:c.228+948_228+950del MANE Select	NP_077718.3:n.228+948_228+950del
NM_001363602.2:c.228+948_228+950del	NP_001350531.1:n.228+948_228+950del