Canonical Allele Identifier: CA2582636098

Gene: NDUFS7

Linked Data

• gnomAD v4: 19-1389063-GCGCACA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1389064_1389069del , CM000681.2:g.1389064_1389069del	GRCh38
NC_000019.9:g.1389063_1389068del , CM000681.1:g.1389063_1389068del	GRCh37
NC_000019.8:g.1340063_1340068del	NCBI36
NG_008283.1:g.10181_10186del

Transcript Alleles

HGVS	Amino-acid change
ENST00000233627.14:c.228+126_228+131del MANE Select	ENSP00000233627.9:n.228+126_228+131del
ENST00000233627.13:c.228+126_228+131del	ENSP00000233627.9:n.228+126_228+131del
ENST00000313408.11:c.228+126_228+131del	ENSP00000364262.5:n.228+126_228+131del
ENST00000414651.3:c.318+126_318+131del	ENSP00000406630.2:n.318+126_318+131del
ENST00000436115.6:n.377_382del
ENST00000534853.5:c.*22+126_*22+131del	ENSP00000442822.1:n.*22+126_*22+131del
ENST00000535382.1:n.480+126_480+131del
ENST00000538523.5:n.284+126_284+131del
ENST00000538662.5:n.255+126_255+131del
ENST00000538929.5:n.318+126_318+131del
ENST00000539480.5:c.228+126_228+131del	ENSP00000443273.1:n.228+126_228+131del
ENST00000540530.5:n.219+126_219+131del
ENST00000543289.5:n.718+126_718+131del
ENST00000545446.5:n.519+126_519+131del
ENST00000546172.7:c.*224+126_*224+131del	ENSP00000467094.1:n.*224+126_*224+131del
ENST00000546283.5:c.228+126_228+131del	ENSP00000440348.1:n.228+126_228+131del
ENST00000618074.4:c.228+126_228+131del	ENSP00000477895.1:n.228+126_228+131del
ENST00000620479.4:c.228+126_228+131del	ENSP00000480984.1:n.228+126_228+131del
ENST00000622587.4:n.224+126_224+131del
NM_024407.4:c.228+126_228+131del	NP_077718.3:n.228+126_228+131del
XM_005259556.3:c.228+126_228+131del	XP_005259613.2:n.228+126_228+131del
NM_001363602.1:c.228+126_228+131del	NP_001350531.1:n.228+126_228+131del
XM_017026768.2:c.354_359del	XP_016882257.2:p.Ala119_His120del
XM_024451499.1:c.249+126_249+131del	XP_024307267.1:n.249+126_249+131del
NM_024407.5:c.228+126_228+131del MANE Select	NP_077718.3:n.228+126_228+131del
NM_001363602.2:c.228+126_228+131del	NP_001350531.1:n.228+126_228+131del