Canonical Allele Identifier: CA2614649754

Gene: NDUFV1

Linked Data

• gnomAD v4: 11-67611754-GGGCCCAGGGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67611758_67611767del , CM000673.2:g.67611758_67611767del	GRCh38
NC_000011.9:g.67379229_67379238del , CM000673.1:g.67379229_67379238del	GRCh37
NC_000011.8:g.67135805_67135814del	NCBI36
NG_013353.1:g.9907_9916del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.1081-139_1081-130del MANE Select	ENSP00000322450.6:n.1081-139_1081-130del
ENST00000647561.1:c.1081-139_1081-130del	ENSP00000497587.1:n.1081-139_1081-130del
ENST00000322776.10:c.1081-139_1081-130del	ENSP00000322450.6:n.1081-139_1081-130del
ENST00000415352.6:c.1060-139_1060-130del	ENSP00000395368.2:n.1060-139_1060-130del
ENST00000526169.1:n.704-139_704-130del
ENST00000526770.5:n.1364-139_1364-130del
ENST00000527355.5:c.369+189_369+198del	ENSP00000432637.1:n.369+189_369+198del
ENST00000527923.1:n.423-139_423-130del
ENST00000529927.5:c.1054-139_1054-130del	ENSP00000436766.1:n.1054-139_1054-130del
ENST00000531250.1:n.206_215del
ENST00000532303.5:c.778-139_778-130del	ENSP00000432015.1:n.778-139_778-130del
ENST00000533919.5:c.485-139_485-130del	ENSP00000435199.1:n.485-139_485-130del
ENST00000534352.1:n.40_49del
NM_001166102.1:c.1054-139_1054-130del	NP_001159574.1:n.1054-139_1054-130del
NM_007103.3:c.1081-139_1081-130del	NP_009034.2:n.1081-139_1081-130del
NM_001166102.2:c.1054-139_1054-130del	NP_001159574.1:n.1054-139_1054-130del
NM_007103.4:c.1081-139_1081-130del MANE Select	NP_009034.2:n.1081-139_1081-130del