Canonical Allele Identifier: CA631300727

Gene: NDUFS7

Linked Data

• dbSNP Id: rs1568989091
• gnomAD v2: 19-1389049-TGCACACTCACATGCGCACATGTGCATGCAAGCTCACATGTATGGACAGATGTGTACACGGACCACAC-T
• gnomAD v4: 19-1389050-TGCACACTCACATGCGCACATGTGCATGCAAGCTCACATGTATGGACAGATGTGTACACGGACCACAC-T
• MyVariant Identifiers: chr19:g.1389050_1389116del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1389061_1389127del , CM000681.2:g.1389061_1389127del	GRCh38
NC_000019.9:g.1389060_1389126del , CM000681.1:g.1389060_1389126del	GRCh37
NC_000019.8:g.1340060_1340126del	NCBI36
NG_008283.1:g.10178_10244del

Transcript Alleles

HGVS	Amino-acid change
ENST00000233627.14:c.228+123_228+189del MANE Select	ENSP00000233627.9:n.228+123_228+189del
ENST00000233627.13:c.228+123_228+189del	ENSP00000233627.9:n.228+123_228+189del
ENST00000313408.11:c.228+123_228+189del	ENSP00000364262.5:n.228+123_228+189del
ENST00000414651.3:c.318+123_318+189del	ENSP00000406630.2:n.318+123_318+189del
ENST00000436115.6:n.374_440del
ENST00000534853.5:c.*22+123_*22+189del	ENSP00000442822.1:n.*22+123_*22+189del
ENST00000535382.1:n.480+123_480+189del
ENST00000538523.5:n.284+123_284+189del
ENST00000538662.5:n.255+123_255+189del
ENST00000538929.5:n.318+123_318+189del
ENST00000539480.5:c.228+123_228+189del	ENSP00000443273.1:n.228+123_228+189del
ENST00000540530.5:n.219+123_219+189del
ENST00000543289.5:n.718+123_718+189del
ENST00000545446.5:n.519+123_519+189del
ENST00000546172.7:c.*224+123_*224+189del	ENSP00000467094.1:n.*224+123_*224+189del
ENST00000546283.5:c.228+123_228+189del	ENSP00000440348.1:n.228+123_228+189del
ENST00000618074.4:c.228+123_228+189del	ENSP00000477895.1:n.228+123_228+189del
ENST00000620479.4:c.228+123_228+189del	ENSP00000480984.1:n.228+123_228+189del
ENST00000622587.4:n.224+123_224+189del
NM_024407.4:c.228+123_228+189del	NP_077718.3:n.228+123_228+189del
XM_005259556.3:c.228+123_228+189del	XP_005259613.2:n.228+123_228+189del
NM_001363602.1:c.228+123_228+189del	NP_001350531.1:n.228+123_228+189del
XM_017026768.2:c.351_417del	XP_016882257.2:p.Cys118HisfsTer?
XM_024451499.1:c.249+123_249+189del	XP_024307267.1:n.249+123_249+189del
NM_024407.5:c.228+123_228+189del MANE Select	NP_077718.3:n.228+123_228+189del
NM_001363602.2:c.228+123_228+189del	NP_001350531.1:n.228+123_228+189del