Canonical Allele Identifier: CA992511749

Gene: NDUFS7

Linked Data

• dbSNP Id: rs2082553599
• gnomAD v3: 19-1391073-A-AGCCGCCCC
• gnomAD v4: 19-1391073-A-AGCCGCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1391074_1391081dup , CM000681.2:g.1391074_1391081dup	GRCh38
NC_000019.9:g.1391073_1391080dup , CM000681.1:g.1391073_1391080dup	GRCh37
NC_000019.8:g.1342073_1342080dup	NCBI36
NG_008283.1:g.12191_12198dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233627.14:c.408+24_408+31dup MANE Select	ENSP00000233627.9:n.408+24_408+31dup
ENST00000233627.13:c.408+24_408+31dup	ENSP00000233627.9:n.408+24_408+31dup
ENST00000313408.11:c.408+24_408+31dup	ENSP00000364262.5:n.408+24_408+31dup
ENST00000414651.3:c.498+24_498+31dup	ENSP00000406630.2:n.498+24_498+31dup
ENST00000436115.6:n.2363+24_2363+31dup
ENST00000534853.5:c.*202+24_*202+31dup	ENSP00000442822.1:n.*202+24_*202+31dup
ENST00000535382.1:n.660+24_660+31dup
ENST00000538523.5:n.464+24_464+31dup
ENST00000538662.5:n.459_466dup
ENST00000538929.5:n.498+24_498+31dup
ENST00000539480.5:c.408+24_408+31dup	ENSP00000443273.1:n.408+24_408+31dup
ENST00000540530.5:n.399+24_399+31dup
ENST00000543289.5:n.922_929dup
ENST00000545446.5:n.699+24_699+31dup
ENST00000546172.7:c.*404+24_*404+31dup	ENSP00000467094.1:n.*404+24_*404+31dup
ENST00000546283.5:c.408+24_408+31dup	ENSP00000440348.1:n.408+24_408+31dup
ENST00000618074.4:c.416_423dup	ENSP00000477895.1:p.Gln142AlafsTer?
ENST00000620479.4:c.408+24_409-30dup	ENSP00000480984.1:n.408+24_409-30dup
ENST00000622587.4:n.428_435dup
NM_024407.4:c.408+24_408+31dup	NP_077718.3:n.408+24_408+31dup
XM_005259556.3:c.408+24_408+31dup	XP_005259613.2:n.408+24_408+31dup
NM_001363602.1:c.408+24_408+31dup	NP_001350531.1:n.408+24_408+31dup
XM_024451499.1:c.429+24_429+31dup	XP_024307267.1:n.429+24_429+31dup
NM_024407.5:c.408+24_408+31dup MANE Select	NP_077718.3:n.408+24_408+31dup
NM_001363602.2:c.408+24_408+31dup	NP_001350531.1:n.408+24_408+31dup