Canonical Allele Identifier: CA2317693452

Gene: NDUFS7

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1389057_1389059delinsTCA , CM000681.2:g.1389057_1389059delinsTCA	GRCh38
NC_000019.9:g.1389056_1389058delinsTCA , CM000681.1:g.1389056_1389058delinsTCA	GRCh37
NC_000019.8:g.1340056_1340058delinsTCA	NCBI36
NG_008283.1:g.10174_10176delinsTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233627.14:c.228+119_228+121delinsTCA MANE Select	ENSP00000233627.9:n.228+119_228+121delinsTCA
ENST00000233627.13:c.228+119_228+121delinsTCA	ENSP00000233627.9:n.228+119_228+121delinsTCA
ENST00000313408.11:c.228+119_228+121delinsTCA	ENSP00000364262.5:n.228+119_228+121delinsTCA
ENST00000414651.3:c.318+119_318+121delinsTCA	ENSP00000406630.2:n.318+119_318+121delinsTCA
ENST00000436115.6:n.370_372delinsTCA
ENST00000534853.5:c.*22+119_*22+121delinsTCA	ENSP00000442822.1:n.*22+119_*22+121delinsTCA
ENST00000535382.1:n.480+119_480+121delinsTCA
ENST00000538523.5:n.284+119_284+121delinsTCA
ENST00000538662.5:n.255+119_255+121delinsTCA
ENST00000538929.5:n.318+119_318+121delinsTCA
ENST00000539480.5:c.228+119_228+121delinsTCA	ENSP00000443273.1:n.228+119_228+121delinsTCA
ENST00000540530.5:n.219+119_219+121delinsTCA
ENST00000543289.5:n.718+119_718+121delinsTCA
ENST00000545446.5:n.519+119_519+121delinsTCA
ENST00000546172.7:c.*224+119_*224+121delinsTCA	ENSP00000467094.1:n.*224+119_*224+121delinsTCA
ENST00000546283.5:c.228+119_228+121delinsTCA	ENSP00000440348.1:n.228+119_228+121delinsTCA
ENST00000618074.4:c.228+119_228+121delinsTCA	ENSP00000477895.1:n.228+119_228+121delinsTCA
ENST00000620479.4:c.228+119_228+121delinsTCA	ENSP00000480984.1:n.228+119_228+121delinsTCA
ENST00000622587.4:n.224+119_224+121delinsTCA
NM_024407.4:c.228+119_228+121delinsTCA	NP_077718.3:n.228+119_228+121delinsTCA
XM_005259556.3:c.228+119_228+121delinsTCA	XP_005259613.2:n.228+119_228+121delinsTCA
NM_001363602.1:c.228+119_228+121delinsTCA	NP_001350531.1:n.228+119_228+121delinsTCA
XM_017026768.2:c.347_349delinsTCA	XP_016882257.2:p.Leu116=
XM_024451499.1:c.249+119_249+121delinsTCA	XP_024307267.1:n.249+119_249+121delinsTCA
NM_024407.5:c.228+119_228+121delinsTCA MANE Select	NP_077718.3:n.228+119_228+121delinsTCA
NM_001363602.2:c.228+119_228+121delinsTCA	NP_001350531.1:n.228+119_228+121delinsTCA