Canonical Allele Identifier: CA2317694057
Gene: NDUFS7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1389696_1389697delinsCT , CM000681.2:g.1389696_1389697delinsCT GRCh38
NC_000019.9:g.1389695_1389696delinsCT , CM000681.1:g.1389695_1389696delinsCT GRCh37
NC_000019.8:g.1340695_1340696delinsCT NCBI36
NG_008283.1:g.10813_10814delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000233627.14:c.228+758_228+759delinsCT MANE Select ENSP00000233627.9:n.228+758_228+759delinsCT
ENST00000233627.13:c.228+758_228+759delinsCT ENSP00000233627.9:n.228+758_228+759delinsCT
ENST00000313408.11:c.228+758_228+759delinsCT ENSP00000364262.5:n.228+758_228+759delinsCT
ENST00000414651.3:c.318+758_318+759delinsCT ENSP00000406630.2:n.318+758_318+759delinsCT
ENST00000436115.6:n.1009_1010delinsCT
ENST00000534853.5:c.*22+758_*22+759delinsCT ENSP00000442822.1:n.*22+758_*22+759delinsCT
ENST00000535382.1:n.480+758_480+759delinsCT
ENST00000538523.5:n.284+758_284+759delinsCT
ENST00000538662.5:n.255+758_255+759delinsCT
ENST00000538929.5:n.318+758_318+759delinsCT
ENST00000539480.5:c.228+758_228+759delinsCT ENSP00000443273.1:n.228+758_228+759delinsCT
ENST00000540530.5:n.219+758_219+759delinsCT
ENST00000543289.5:n.718+758_718+759delinsCT
ENST00000545446.5:n.519+758_519+759delinsCT
ENST00000546172.7:c.*224+758_*224+759delinsCT ENSP00000467094.1:n.*224+758_*224+759delinsCT
ENST00000546283.5:c.228+758_228+759delinsCT ENSP00000440348.1:n.228+758_228+759delinsCT
ENST00000618074.4:c.228+758_228+759delinsCT ENSP00000477895.1:n.228+758_228+759delinsCT
ENST00000620479.4:c.228+758_228+759delinsCT ENSP00000480984.1:n.228+758_228+759delinsCT
ENST00000622587.4:n.224+758_224+759delinsCT
NM_024407.4:c.228+758_228+759delinsCT NP_077718.3:n.228+758_228+759delinsCT
XM_005259556.3:c.228+758_228+759delinsCT XP_005259613.2:n.228+758_228+759delinsCT
NM_001363602.1:c.228+758_228+759delinsCT NP_001350531.1:n.228+758_228+759delinsCT
XM_017026768.2:c.*101_*102delinsCT XP_016882257.2:n.*101_*102delinsCT
XM_024451499.1:c.249+758_249+759delinsCT XP_024307267.1:n.249+758_249+759delinsCT
NM_024407.5:c.228+758_228+759delinsCT MANE Select NP_077718.3:n.228+758_228+759delinsCT
NM_001363602.2:c.228+758_228+759delinsCT NP_001350531.1:n.228+758_228+759delinsCT