Canonical Allele Identifier: CA992511409

Gene: NDUFS7

Linked Data

• dbSNP Id: rs531607907
• gnomAD v3: 19-1389907-CTTTT-C
• gnomAD v4: 19-1389907-CTTTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1389918_1389921del , CM000681.2:g.1389918_1389921del	GRCh38
NC_000019.9:g.1389917_1389920del , CM000681.1:g.1389917_1389920del	GRCh37
NC_000019.8:g.1340917_1340920del	NCBI36
NG_008283.1:g.11035_11038del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233627.14:c.229-953_229-950del MANE Select	ENSP00000233627.9:n.229-953_229-950del
ENST00000233627.13:c.229-953_229-950del	ENSP00000233627.9:n.229-953_229-950del
ENST00000313408.11:c.229-953_229-950del	ENSP00000364262.5:n.229-953_229-950del
ENST00000414651.3:c.319-953_319-950del	ENSP00000406630.2:n.319-953_319-950del
ENST00000436115.6:n.1231_1234del
ENST00000534853.5:c.*23-953_*23-950del	ENSP00000442822.1:n.*23-953_*23-950del
ENST00000535382.1:n.481-953_481-950del
ENST00000538523.5:n.285-953_285-950del
ENST00000538662.5:n.256-953_256-950del
ENST00000538929.5:n.319-953_319-950del
ENST00000539480.5:c.229-953_229-950del	ENSP00000443273.1:n.229-953_229-950del
ENST00000540530.5:n.220-953_220-950del
ENST00000543289.5:n.719-953_719-950del
ENST00000545446.5:n.520-953_520-950del
ENST00000546172.7:c.*225-953_*225-950del	ENSP00000467094.1:n.*225-953_*225-950del
ENST00000546283.5:c.229-953_229-950del	ENSP00000440348.1:n.229-953_229-950del
ENST00000618074.4:c.229-953_229-950del	ENSP00000477895.1:n.229-953_229-950del
ENST00000620479.4:c.229-953_229-950del	ENSP00000480984.1:n.229-953_229-950del
ENST00000622587.4:n.225-953_225-950del
NM_024407.4:c.229-953_229-950del	NP_077718.3:n.229-953_229-950del
XM_005259556.3:c.229-953_229-950del	XP_005259613.2:n.229-953_229-950del
NM_001363602.1:c.229-953_229-950del	NP_001350531.1:n.229-953_229-950del
XM_024451499.1:c.250-953_250-950del	XP_024307267.1:n.250-953_250-950del
NM_024407.5:c.229-953_229-950del MANE Select	NP_077718.3:n.229-953_229-950del
NM_001363602.2:c.229-953_229-950del	NP_001350531.1:n.229-953_229-950del