Canonical Allele Identifier: CA2838999126
Gene: NDUFV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67611938del , CM000673.2:g.67611938del GRCh38
NC_000011.9:g.67379409del , CM000673.1:g.67379409del GRCh37
NC_000011.8:g.67135985del NCBI36
NG_013353.1:g.10087del

Transcript Alleles

HGVS Amino-acid Change
ENST00000322776.11:c.1122del MANE Select ENSP00000322450.6:p.Tyr374Ter
ENST00000647561.1:c.1122del ENSP00000497587.1:p.Tyr374Ter
ENST00000322776.10:c.1122del ENSP00000322450.6:p.Tyr374Ter
ENST00000415352.6:c.1101del ENSP00000395368.2:p.Tyr367Ter
ENST00000526169.1:n.745del
ENST00000526770.5:n.1405del
ENST00000527355.5:c.370-182del ENSP00000432637.1:n.370-182del
ENST00000527923.1:n.464del
ENST00000529927.5:c.1095del ENSP00000436766.1:p.Tyr365Ter
ENST00000531250.1:n.386del
ENST00000532303.5:c.819del ENSP00000432015.1:p.Tyr273Ter
ENST00000533919.5:c.526del ENSP00000435199.1:n.526del
ENST00000534352.1:n.220del
NM_001166102.1:c.1095del NP_001159574.1:p.Tyr365Ter
NM_007103.3:c.1122del NP_009034.2:p.Tyr374Ter
NM_001166102.2:c.1095del NP_001159574.1:p.Tyr365Ter
NM_007103.4:c.1122del MANE Select NP_009034.2:p.Tyr374Ter