Canonical Allele Identifier: CA2665682646

Gene: NDUFAF3

Linked Data

• gnomAD v4: 3-49022385-C-CGAGCTGTATCAGCG

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49022388_49022401dup , CM000665.2:g.49022388_49022401dup	GRCh38
NC_000003.11:g.49059821_49059834dup , CM000665.1:g.49059821_49059834dup	GRCh37
NC_000003.10:g.49034825_49034838dup	NCBI36
NG_012091.1:g.12044_12057dup
NG_016282.1:g.6914_6927dup
NG_033126.1:g.3673_3686dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326925.11:c.120_133dup MANE Select	ENSP00000323076.5:p.Thr45SerfsTer30
ENST00000326912.8:c.-52_-39dup	ENSP00000323003.4:n.-52_-39dup
ENST00000326925.10:c.120_133dup	ENSP00000323076.5:p.Thr45SerfsTer30
ENST00000395458.6:c.-52_-39dup	ENSP00000378843.2:n.-52_-39dup
ENST00000451378.2:c.-52_-39dup	ENSP00000402465.2:n.-52_-39dup
ENST00000480392.1:n.144_157dup
ENST00000496152.1:n.276_289dup
NM_199069.1:c.120_133dup	NP_951032.1:p.Thr45SerfsTer30
NM_199070.1:c.-52_-39dup	NP_951033.1:n.-52_-39dup
NM_199073.1:c.-52_-39dup	NP_951047.1:n.-52_-39dup
NM_199074.1:c.-52_-39dup	NP_951056.1:n.-52_-39dup
NM_199069.2:c.120_133dup MANE Select	NP_951032.1:p.Thr45SerfsTer30
NM_199070.2:c.-52_-39dup	NP_951033.1:n.-52_-39dup
NM_199073.2:c.-52_-39dup	NP_951047.1:n.-52_-39dup
NM_199074.2:c.-52_-39dup	NP_951056.1:n.-52_-39dup