Canonical Allele Identifier: CA2317694165

Gene: NDUFS7

Linked Data

• dbSNP Id: rs2082542769
• gnomAD v4: 19-1389883-GTTCTTTTCTTTTTCTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1389897_1389912del , CM000681.2:g.1389897_1389912del	GRCh38
NC_000019.9:g.1389896_1389911del , CM000681.1:g.1389896_1389911del	GRCh37
NC_000019.8:g.1340896_1340911del	NCBI36
NG_008283.1:g.11014_11029del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233627.14:c.228+959_229-959del MANE Select	ENSP00000233627.9:n.228+959_229-959del
ENST00000233627.13:c.228+959_229-959del	ENSP00000233627.9:n.228+959_229-959del
ENST00000313408.11:c.228+959_229-959del	ENSP00000364262.5:n.228+959_229-959del
ENST00000414651.3:c.318+959_319-959del	ENSP00000406630.2:n.318+959_319-959del
ENST00000436115.6:n.1210_1225del
ENST00000534853.5:c.*22+959_*23-959del	ENSP00000442822.1:n.*22+959_*23-959del
ENST00000535382.1:n.480+959_481-959del
ENST00000538523.5:n.284+959_285-959del
ENST00000538662.5:n.255+959_256-959del
ENST00000538929.5:n.318+959_319-959del
ENST00000539480.5:c.228+959_229-959del	ENSP00000443273.1:n.228+959_229-959del
ENST00000540530.5:n.219+959_220-959del
ENST00000543289.5:n.718+959_719-959del
ENST00000545446.5:n.519+959_520-959del
ENST00000546172.7:c.*224+959_*225-959del	ENSP00000467094.1:n.*224+959_*225-959del
ENST00000546283.5:c.228+959_229-959del	ENSP00000440348.1:n.228+959_229-959del
ENST00000618074.4:c.228+959_229-959del	ENSP00000477895.1:n.228+959_229-959del
ENST00000620479.4:c.228+959_229-959del	ENSP00000480984.1:n.228+959_229-959del
ENST00000622587.4:n.224+959_225-959del
NM_024407.4:c.228+959_229-959del	NP_077718.3:n.228+959_229-959del
XM_005259556.3:c.228+959_229-959del	XP_005259613.2:n.228+959_229-959del
NM_001363602.1:c.228+959_229-959del	NP_001350531.1:n.228+959_229-959del
XM_024451499.1:c.249+959_250-959del	XP_024307267.1:n.249+959_250-959del
NM_024407.5:c.228+959_229-959del MANE Select	NP_077718.3:n.228+959_229-959del
NM_001363602.2:c.228+959_229-959del	NP_001350531.1:n.228+959_229-959del