Canonical Allele Identifier: CA304058181

Gene: NDUFS7

Linked Data

• dbSNP Id: rs1010838795
• gnomAD v2: 19-1389151-CGCACACATGCACACTT-C
• gnomAD v3: 19-1389152-CGCACACATGCACACTT-C
• gnomAD v4: 19-1389152-CGCACACATGCACACTT-C
• MyVariant Identifiers: chr19:g.1389152_1389167del (hg19) ; chr19:g.1389153_1389168del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1389160_1389175del , CM000681.2:g.1389160_1389175del	GRCh38
NC_000019.9:g.1389159_1389174del , CM000681.1:g.1389159_1389174del	GRCh37
NC_000019.8:g.1340159_1340174del	NCBI36
NG_008283.1:g.10277_10292del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233627.14:c.228+222_228+237del MANE Select	ENSP00000233627.9:n.228+222_228+237del
ENST00000233627.13:c.228+222_228+237del	ENSP00000233627.9:n.228+222_228+237del
ENST00000313408.11:c.228+222_228+237del	ENSP00000364262.5:n.228+222_228+237del
ENST00000414651.3:c.318+222_318+237del	ENSP00000406630.2:n.318+222_318+237del
ENST00000436115.6:n.473_488del
ENST00000534853.5:c.*22+222_*22+237del	ENSP00000442822.1:n.*22+222_*22+237del
ENST00000535382.1:n.480+222_480+237del
ENST00000538523.5:n.284+222_284+237del
ENST00000538662.5:n.255+222_255+237del
ENST00000538929.5:n.318+222_318+237del
ENST00000539480.5:c.228+222_228+237del	ENSP00000443273.1:n.228+222_228+237del
ENST00000540530.5:n.219+222_219+237del
ENST00000543289.5:n.718+222_718+237del
ENST00000545446.5:n.519+222_519+237del
ENST00000546172.7:c.*224+222_*224+237del	ENSP00000467094.1:n.*224+222_*224+237del
ENST00000546283.5:c.228+222_228+237del	ENSP00000440348.1:n.228+222_228+237del
ENST00000618074.4:c.228+222_228+237del	ENSP00000477895.1:n.228+222_228+237del
ENST00000620479.4:c.228+222_228+237del	ENSP00000480984.1:n.228+222_228+237del
ENST00000622587.4:n.224+222_224+237del
NM_024407.4:c.228+222_228+237del	NP_077718.3:n.228+222_228+237del
XM_005259556.3:c.228+222_228+237del	XP_005259613.2:n.228+222_228+237del
NM_001363602.1:c.228+222_228+237del	NP_001350531.1:n.228+222_228+237del
XM_017026768.2:c.450_465del	XP_016882257.2:p.Ala151MetfsTer?
XM_024451499.1:c.249+222_249+237del	XP_024307267.1:n.249+222_249+237del
NM_024407.5:c.228+222_228+237del MANE Select	NP_077718.3:n.228+222_228+237del
NM_001363602.2:c.228+222_228+237del	NP_001350531.1:n.228+222_228+237del