Canonical Allele Identifier: CA2577592658
Gene: NDUFAF3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49022513_49022518del , CM000665.2:g.49022513_49022518del GRCh38
NC_000003.11:g.49059946_49059951del , CM000665.1:g.49059946_49059951del GRCh37
NC_000003.10:g.49034950_49034955del NCBI36
NG_012091.1:g.11927_11932del
NG_016282.1:g.7039_7044del
NG_033126.1:g.3556_3561del

Transcript Alleles

HGVS Amino-acid Change
ENST00000326925.11:c.245_250del MANE Select ENSP00000323076.5:p.Leu82_Pro83del
ENST00000326912.8:c.74_79del ENSP00000323003.4:p.Leu25_Pro26del
ENST00000326925.10:c.245_250del ENSP00000323076.5:p.Leu82_Pro83del
ENST00000395458.6:c.74_79del ENSP00000378843.2:p.Leu25_Pro26del
ENST00000451378.2:c.74_79del ENSP00000402465.2:p.Leu25_Pro26del
ENST00000480392.1:n.269_274del
ENST00000496152.1:n.401_406del
NM_199069.1:c.245_250del NP_951032.1:p.Leu82_Pro83del
NM_199070.1:c.74_79del NP_951033.1:p.Leu25_Pro26del
NM_199073.1:c.74_79del NP_951047.1:p.Leu25_Pro26del
NM_199074.1:c.74_79del NP_951056.1:p.Leu25_Pro26del
NM_199069.2:c.245_250del MANE Select NP_951032.1:p.Leu82_Pro83del
NM_199070.2:c.74_79del NP_951033.1:p.Leu25_Pro26del
NM_199073.2:c.74_79del NP_951047.1:p.Leu25_Pro26del
NM_199074.2:c.74_79del NP_951056.1:p.Leu25_Pro26del