Canonical Allele Identifier: CA304058983

Gene: NDUFS7

Linked Data

• dbSNP Id: rs1032750490
• gnomAD v2: 19-1389882-GTTCTTTTCTTT-G
• gnomAD v3: 19-1389883-GTTCTTTTCTTT-G
• gnomAD v4: 19-1389883-GTTCTTTTCTTT-G
• MyVariant Identifiers: chr19:g.1389883_1389893del (hg19) ; chr19:g.1389884_1389894del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1389896_1389906del , CM000681.2:g.1389896_1389906del	GRCh38
NC_000019.9:g.1389895_1389905del , CM000681.1:g.1389895_1389905del	GRCh37
NC_000019.8:g.1340895_1340905del	NCBI36
NG_008283.1:g.11013_11023del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233627.14:c.228+958_229-965del MANE Select	ENSP00000233627.9:n.228+958_229-965del
ENST00000233627.13:c.228+958_229-965del	ENSP00000233627.9:n.228+958_229-965del
ENST00000313408.11:c.228+958_229-965del	ENSP00000364262.5:n.228+958_229-965del
ENST00000414651.3:c.318+958_319-965del	ENSP00000406630.2:n.318+958_319-965del
ENST00000436115.6:n.1209_1219del
ENST00000534853.5:c.*22+958_*23-965del	ENSP00000442822.1:n.*22+958_*23-965del
ENST00000535382.1:n.480+958_481-965del
ENST00000538523.5:n.284+958_285-965del
ENST00000538662.5:n.255+958_256-965del
ENST00000538929.5:n.318+958_319-965del
ENST00000539480.5:c.228+958_229-965del	ENSP00000443273.1:n.228+958_229-965del
ENST00000540530.5:n.219+958_220-965del
ENST00000543289.5:n.718+958_719-965del
ENST00000545446.5:n.519+958_520-965del
ENST00000546172.7:c.*224+958_*225-965del	ENSP00000467094.1:n.*224+958_*225-965del
ENST00000546283.5:c.228+958_229-965del	ENSP00000440348.1:n.228+958_229-965del
ENST00000618074.4:c.228+958_229-965del	ENSP00000477895.1:n.228+958_229-965del
ENST00000620479.4:c.228+958_229-965del	ENSP00000480984.1:n.228+958_229-965del
ENST00000622587.4:n.224+958_225-965del
NM_024407.4:c.228+958_229-965del	NP_077718.3:n.228+958_229-965del
XM_005259556.3:c.228+958_229-965del	XP_005259613.2:n.228+958_229-965del
NM_001363602.1:c.228+958_229-965del	NP_001350531.1:n.228+958_229-965del
XM_024451499.1:c.249+958_250-965del	XP_024307267.1:n.249+958_250-965del
NM_024407.5:c.228+958_229-965del MANE Select	NP_077718.3:n.228+958_229-965del
NM_001363602.2:c.228+958_229-965del	NP_001350531.1:n.228+958_229-965del