Canonical Allele Identifier: CA2390331

Gene: NDUFAF3

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49023106_49023107del , CM000665.2:g.49023106_49023107del	GRCh38
NC_000003.11:g.49060539_49060540del , CM000665.1:g.49060539_49060540del	GRCh37
NC_000003.10:g.49035543_49035544del	NCBI36
NG_012091.1:g.11336_11337del
NG_016282.1:g.7632_7633del
NG_033126.1:g.2965_2966del

Transcript Alleles

HGVS	Amino-acid Change
NM_199069.2:c.489_490del MANE Select	NP_951032.1:p.Gly164SerfsTer29
ENST00000326925.11:c.489_490del MANE Select	ENSP00000323076.5:p.Gly164SerfsTer29
NM_199069.1:c.489_490del	NP_951032.1:p.Gly164SerfsTer29
NM_199070.1:c.318_319del	NP_951033.1:p.Gly107SerfsTer29
NM_199070.2:c.318_319del	NP_951033.1:p.Gly107SerfsTer29
NM_199073.1:c.318_319del	NP_951047.1:p.Gly107SerfsTer29
NM_199073.2:c.318_319del	NP_951047.1:p.Gly107SerfsTer29
NM_199074.1:c.318_319del	NP_951056.1:p.Gly107SerfsTer29
NM_199074.2:c.318_319del	NP_951056.1:p.Gly107SerfsTer29
ENST00000326912.8:c.318_319del	ENSP00000323003.4:p.Gly107SerfsTer29
ENST00000326925.10:c.489_490del	ENSP00000323076.5:p.Gly164SerfsTer29
ENST00000395458.6:c.318_319del	ENSP00000378843.2:p.Gly107SerfsTer29
ENST00000451378.2:c.318_319del	ENSP00000402465.2:p.Gly107SerfsTer29
ENST00000480392.1:n.699_700del
ENST00000496152.1:n.645_646del