Canonical Allele Identifier: CA783450204

Gene: NDUFS7

Linked Data

• dbSNP Id: rs1381312682
• MyVariant Identifiers: chr19:g.1389684_1389703del (hg19) ; chr19:g.1389685_1389704del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1389685_1389704del , CM000681.2:g.1389685_1389704del	GRCh38
NC_000019.9:g.1389684_1389703del , CM000681.1:g.1389684_1389703del	GRCh37
NC_000019.8:g.1340684_1340703del	NCBI36
NG_008283.1:g.10802_10821del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233627.14:c.228+747_228+766del MANE Select	ENSP00000233627.9:n.228+747_228+766del
ENST00000233627.13:c.228+747_228+766del	ENSP00000233627.9:n.228+747_228+766del
ENST00000313408.11:c.228+747_228+766del	ENSP00000364262.5:n.228+747_228+766del
ENST00000414651.3:c.318+747_318+766del	ENSP00000406630.2:n.318+747_318+766del
ENST00000436115.6:n.998_1017del
ENST00000534853.5:c.*22+747_*22+766del	ENSP00000442822.1:n.*22+747_*22+766del
ENST00000535382.1:n.480+747_480+766del
ENST00000538523.5:n.284+747_284+766del
ENST00000538662.5:n.255+747_255+766del
ENST00000538929.5:n.318+747_318+766del
ENST00000539480.5:c.228+747_228+766del	ENSP00000443273.1:n.228+747_228+766del
ENST00000540530.5:n.219+747_219+766del
ENST00000543289.5:n.718+747_718+766del
ENST00000545446.5:n.519+747_519+766del
ENST00000546172.7:c.*224+747_*224+766del	ENSP00000467094.1:n.*224+747_*224+766del
ENST00000546283.5:c.228+747_228+766del	ENSP00000440348.1:n.228+747_228+766del
ENST00000618074.4:c.228+747_228+766del	ENSP00000477895.1:n.228+747_228+766del
ENST00000620479.4:c.228+747_228+766del	ENSP00000480984.1:n.228+747_228+766del
ENST00000622587.4:n.224+747_224+766del
NM_024407.4:c.228+747_228+766del	NP_077718.3:n.228+747_228+766del
XM_005259556.3:c.228+747_228+766del	XP_005259613.2:n.228+747_228+766del
NM_001363602.1:c.228+747_228+766del	NP_001350531.1:n.228+747_228+766del
XM_017026768.2:c.*90_*109del	XP_016882257.2:n.*90_*109del
XM_024451499.1:c.249+747_249+766del	XP_024307267.1:n.249+747_249+766del
NM_024407.5:c.228+747_228+766del MANE Select	NP_077718.3:n.228+747_228+766del
NM_001363602.2:c.228+747_228+766del	NP_001350531.1:n.228+747_228+766del