Canonical Allele Identifier: CA2665682648

Gene: NDUFAF3

Linked Data

• gnomAD v4: 3-49022530-C-CAGT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49022531_49022533dup , CM000665.2:g.49022531_49022533dup	GRCh38
NC_000003.11:g.49059964_49059966dup , CM000665.1:g.49059964_49059966dup	GRCh37
NC_000003.10:g.49034968_49034970dup	NCBI36
NG_012091.1:g.11910_11912dup
NG_016282.1:g.7057_7059dup
NG_033126.1:g.3539_3541dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326925.11:c.263_265dup MANE Select	ENSP00000323076.5:p.Trp89Ter
ENST00000326912.8:c.92_94dup	ENSP00000323003.4:p.Trp32Ter
ENST00000326925.10:c.263_265dup	ENSP00000323076.5:p.Trp89Ter
ENST00000395458.6:c.92_94dup	ENSP00000378843.2:p.Trp32Ter
ENST00000451378.2:c.92_94dup	ENSP00000402465.2:p.Trp32Ter
ENST00000480392.1:n.287_289dup
ENST00000496152.1:n.419_421dup
NM_199069.1:c.263_265dup	NP_951032.1:p.Trp89Ter
NM_199070.1:c.92_94dup	NP_951033.1:p.Trp32Ter
NM_199073.1:c.92_94dup	NP_951047.1:p.Trp32Ter
NM_199074.1:c.92_94dup	NP_951056.1:p.Trp32Ter
NM_199069.2:c.263_265dup MANE Select	NP_951032.1:p.Trp89Ter
NM_199070.2:c.92_94dup	NP_951033.1:p.Trp32Ter
NM_199073.2:c.92_94dup	NP_951047.1:p.Trp32Ter
NM_199074.2:c.92_94dup	NP_951056.1:p.Trp32Ter