Canonical Allele Identifier: CA2317693798
Gene: NDUFS7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1389320_1389321delinsTG , CM000681.2:g.1389320_1389321delinsTG GRCh38
NC_000019.9:g.1389319_1389320delinsTG , CM000681.1:g.1389319_1389320delinsTG GRCh37
NC_000019.8:g.1340319_1340320delinsTG NCBI36
NG_008283.1:g.10437_10438delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000233627.14:c.228+382_228+383delinsTG MANE Select ENSP00000233627.9:n.228+382_228+383delinsTG
ENST00000233627.13:c.228+382_228+383delinsTG ENSP00000233627.9:n.228+382_228+383delinsTG
ENST00000313408.11:c.228+382_228+383delinsTG ENSP00000364262.5:n.228+382_228+383delinsTG
ENST00000414651.3:c.318+382_318+383delinsTG ENSP00000406630.2:n.318+382_318+383delinsTG
ENST00000436115.6:n.633_634delinsTG
ENST00000534853.5:c.*22+382_*22+383delinsTG ENSP00000442822.1:n.*22+382_*22+383delinsTG
ENST00000535382.1:n.480+382_480+383delinsTG
ENST00000538523.5:n.284+382_284+383delinsTG
ENST00000538662.5:n.255+382_255+383delinsTG
ENST00000538929.5:n.318+382_318+383delinsTG
ENST00000539480.5:c.228+382_228+383delinsTG ENSP00000443273.1:n.228+382_228+383delinsTG
ENST00000540530.5:n.219+382_219+383delinsTG
ENST00000543289.5:n.718+382_718+383delinsTG
ENST00000545446.5:n.519+382_519+383delinsTG
ENST00000546172.7:c.*224+382_*224+383delinsTG ENSP00000467094.1:n.*224+382_*224+383delinsTG
ENST00000546283.5:c.228+382_228+383delinsTG ENSP00000440348.1:n.228+382_228+383delinsTG
ENST00000618074.4:c.228+382_228+383delinsTG ENSP00000477895.1:n.228+382_228+383delinsTG
ENST00000620479.4:c.228+382_228+383delinsTG ENSP00000480984.1:n.228+382_228+383delinsTG
ENST00000622587.4:n.224+382_224+383delinsTG
NM_024407.4:c.228+382_228+383delinsTG NP_077718.3:n.228+382_228+383delinsTG
XM_005259556.3:c.228+382_228+383delinsTG XP_005259613.2:n.228+382_228+383delinsTG
NM_001363602.1:c.228+382_228+383delinsTG NP_001350531.1:n.228+382_228+383delinsTG
XM_017026768.2:c.610_611delinsTG XP_016882257.2:p.Cys204=
XM_024451499.1:c.249+382_249+383delinsTG XP_024307267.1:n.249+382_249+383delinsTG
NM_024407.5:c.228+382_228+383delinsTG MANE Select NP_077718.3:n.228+382_228+383delinsTG
NM_001363602.2:c.228+382_228+383delinsTG NP_001350531.1:n.228+382_228+383delinsTG