Canonical Allele Identifier: CA631300748

Gene: NDUFS7

Linked Data

• dbSNP Id: rs1287114448
• gnomAD v2: 19-1389113-ACACGCACACT-A
• gnomAD v3: 19-1389114-ACACGCACACT-A
• gnomAD v4: 19-1389114-ACACGCACACT-A
• MyVariant Identifiers: chr19:g.1389114_1389123del (hg19) ; chr19:g.1389115_1389124del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1389124_1389133del , CM000681.2:g.1389124_1389133del	GRCh38
NC_000019.9:g.1389123_1389132del , CM000681.1:g.1389123_1389132del	GRCh37
NC_000019.8:g.1340123_1340132del	NCBI36
NG_008283.1:g.10241_10250del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233627.14:c.228+186_228+195del MANE Select	ENSP00000233627.9:n.228+186_228+195del
ENST00000233627.13:c.228+186_228+195del	ENSP00000233627.9:n.228+186_228+195del
ENST00000313408.11:c.228+186_228+195del	ENSP00000364262.5:n.228+186_228+195del
ENST00000414651.3:c.318+186_318+195del	ENSP00000406630.2:n.318+186_318+195del
ENST00000436115.6:n.437_446del
ENST00000534853.5:c.*22+186_*22+195del	ENSP00000442822.1:n.*22+186_*22+195del
ENST00000535382.1:n.480+186_480+195del
ENST00000538523.5:n.284+186_284+195del
ENST00000538662.5:n.255+186_255+195del
ENST00000538929.5:n.318+186_318+195del
ENST00000539480.5:c.228+186_228+195del	ENSP00000443273.1:n.228+186_228+195del
ENST00000540530.5:n.219+186_219+195del
ENST00000543289.5:n.718+186_718+195del
ENST00000545446.5:n.519+186_519+195del
ENST00000546172.7:c.*224+186_*224+195del	ENSP00000467094.1:n.*224+186_*224+195del
ENST00000546283.5:c.228+186_228+195del	ENSP00000440348.1:n.228+186_228+195del
ENST00000618074.4:c.228+186_228+195del	ENSP00000477895.1:n.228+186_228+195del
ENST00000620479.4:c.228+186_228+195del	ENSP00000480984.1:n.228+186_228+195del
ENST00000622587.4:n.224+186_224+195del
NM_024407.4:c.228+186_228+195del	NP_077718.3:n.228+186_228+195del
XM_005259556.3:c.228+186_228+195del	XP_005259613.2:n.228+186_228+195del
NM_001363602.1:c.228+186_228+195del	NP_001350531.1:n.228+186_228+195del
XM_017026768.2:c.414_423del	XP_016882257.2:p.His139MetfsTer?
XM_024451499.1:c.249+186_249+195del	XP_024307267.1:n.249+186_249+195del
NM_024407.5:c.228+186_228+195del MANE Select	NP_077718.3:n.228+186_228+195del
NM_001363602.2:c.228+186_228+195del	NP_001350531.1:n.228+186_228+195del