Canonical Allele Identifier: CA304058508

Gene: NDUFS7

Linked Data

• dbSNP Id: rs1025607493
• gnomAD v2: 19-1389314-ACACATGCACACT-A
• gnomAD v3: 19-1389315-ACACATGCACACT-A
• gnomAD v4: 19-1389315-ACACATGCACACT-A
• MyVariant Identifiers: chr19:g.1389315_1389326del (hg19) ; chr19:g.1389316_1389327del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1389320_1389331del , CM000681.2:g.1389320_1389331del	GRCh38
NC_000019.9:g.1389319_1389330del , CM000681.1:g.1389319_1389330del	GRCh37
NC_000019.8:g.1340319_1340330del	NCBI36
NG_008283.1:g.10437_10448del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233627.14:c.228+382_228+393del MANE Select	ENSP00000233627.9:n.228+382_228+393del
ENST00000233627.13:c.228+382_228+393del	ENSP00000233627.9:n.228+382_228+393del
ENST00000313408.11:c.228+382_228+393del	ENSP00000364262.5:n.228+382_228+393del
ENST00000414651.3:c.318+382_318+393del	ENSP00000406630.2:n.318+382_318+393del
ENST00000436115.6:n.633_644del
ENST00000534853.5:c.*22+382_*22+393del	ENSP00000442822.1:n.*22+382_*22+393del
ENST00000535382.1:n.480+382_480+393del
ENST00000538523.5:n.284+382_284+393del
ENST00000538662.5:n.255+382_255+393del
ENST00000538929.5:n.318+382_318+393del
ENST00000539480.5:c.228+382_228+393del	ENSP00000443273.1:n.228+382_228+393del
ENST00000540530.5:n.219+382_219+393del
ENST00000543289.5:n.718+382_718+393del
ENST00000545446.5:n.519+382_519+393del
ENST00000546172.7:c.*224+382_*224+393del	ENSP00000467094.1:n.*224+382_*224+393del
ENST00000546283.5:c.228+382_228+393del	ENSP00000440348.1:n.228+382_228+393del
ENST00000618074.4:c.228+382_228+393del	ENSP00000477895.1:n.228+382_228+393del
ENST00000620479.4:c.228+382_228+393del	ENSP00000480984.1:n.228+382_228+393del
ENST00000622587.4:n.224+382_224+393del
NM_024407.4:c.228+382_228+393del	NP_077718.3:n.228+382_228+393del
XM_005259556.3:c.228+382_228+393del	XP_005259613.2:n.228+382_228+393del
NM_001363602.1:c.228+382_228+393del	NP_001350531.1:n.228+382_228+393del
XM_017026768.2:c.610_621del	XP_016882257.2:p.Cys204_Thr207del
XM_024451499.1:c.249+382_249+393del	XP_024307267.1:n.249+382_249+393del
NM_024407.5:c.228+382_228+393del MANE Select	NP_077718.3:n.228+382_228+393del
NM_001363602.2:c.228+382_228+393del	NP_001350531.1:n.228+382_228+393del