Canonical Allele Identifier: CA631300857

Gene: NDUFS7

Linked Data

• dbSNP Id: rs1183742987
• gnomAD v2: 19-1389315-CACAT-C
• gnomAD v3: 19-1389316-CACAT-C
• gnomAD v4: 19-1389316-CACAT-C
• MyVariant Identifiers: chr19:g.1389316_1389319del (hg19) ; chr19:g.1389317_1389320del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1389317_1389320del , CM000681.2:g.1389317_1389320del	GRCh38
NC_000019.9:g.1389316_1389319del , CM000681.1:g.1389316_1389319del	GRCh37
NC_000019.8:g.1340316_1340319del	NCBI36
NG_008283.1:g.10434_10437del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233627.14:c.228+379_228+382del MANE Select	ENSP00000233627.9:n.228+379_228+382del
ENST00000233627.13:c.228+379_228+382del	ENSP00000233627.9:n.228+379_228+382del
ENST00000313408.11:c.228+379_228+382del	ENSP00000364262.5:n.228+379_228+382del
ENST00000414651.3:c.318+379_318+382del	ENSP00000406630.2:n.318+379_318+382del
ENST00000436115.6:n.630_633del
ENST00000534853.5:c.*22+379_*22+382del	ENSP00000442822.1:n.*22+379_*22+382del
ENST00000535382.1:n.480+379_480+382del
ENST00000538523.5:n.284+379_284+382del
ENST00000538662.5:n.255+379_255+382del
ENST00000538929.5:n.318+379_318+382del
ENST00000539480.5:c.228+379_228+382del	ENSP00000443273.1:n.228+379_228+382del
ENST00000540530.5:n.219+379_219+382del
ENST00000543289.5:n.718+379_718+382del
ENST00000545446.5:n.519+379_519+382del
ENST00000546172.7:c.*224+379_*224+382del	ENSP00000467094.1:n.*224+379_*224+382del
ENST00000546283.5:c.228+379_228+382del	ENSP00000440348.1:n.228+379_228+382del
ENST00000618074.4:c.228+379_228+382del	ENSP00000477895.1:n.228+379_228+382del
ENST00000620479.4:c.228+379_228+382del	ENSP00000480984.1:n.228+379_228+382del
ENST00000622587.4:n.224+379_224+382del
NM_024407.4:c.228+379_228+382del	NP_077718.3:n.228+379_228+382del
XM_005259556.3:c.228+379_228+382del	XP_005259613.2:n.228+379_228+382del
NM_001363602.1:c.228+379_228+382del	NP_001350531.1:n.228+379_228+382del
XM_017026768.2:c.607_610del	XP_016882257.2:p.Thr203AlafsTer29
XM_024451499.1:c.249+379_249+382del	XP_024307267.1:n.249+379_249+382del
NM_024407.5:c.228+379_228+382del MANE Select	NP_077718.3:n.228+379_228+382del
NM_001363602.2:c.228+379_228+382del	NP_001350531.1:n.228+379_228+382del