Canonical Allele Identifier: CA2739270651

Gene: NDUFV1

Linked Data

• ClinVar Variation Id: 2861106
• ClinVar RCV Id: RCV003697213

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67612001del , CM000673.2:g.67612001del	GRCh38
NC_000011.9:g.67379472del , CM000673.1:g.67379472del	GRCh37
NC_000011.8:g.67136048del	NCBI36
NG_013353.1:g.10150del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.1162+23del MANE Select	ENSP00000322450.6:n.1162+23del
ENST00000647561.1:c.1162+23del	ENSP00000497587.1:n.1162+23del
ENST00000322776.10:c.1162+23del	ENSP00000322450.6:n.1162+23del
ENST00000415352.6:c.1141+23del	ENSP00000395368.2:n.1141+23del
ENST00000526770.5:n.1445+23del
ENST00000527355.5:c.370-119del	ENSP00000432637.1:n.370-119del
ENST00000527923.1:n.504+23del
ENST00000529927.5:c.1135+23del	ENSP00000436766.1:n.1135+23del
ENST00000531250.1:n.426+23del
ENST00000532303.5:c.859+23del	ENSP00000432015.1:n.859+23del
ENST00000533919.5:c.566+23del	ENSP00000435199.1:n.566+23del
ENST00000534352.1:n.283del
NM_001166102.1:c.1135+23del	NP_001159574.1:n.1135+23del
NM_007103.3:c.1162+23del	NP_009034.2:n.1162+23del
NM_001166102.2:c.1135+23del	NP_001159574.1:n.1135+23del
NM_007103.4:c.1162+23del MANE Select	NP_009034.2:n.1162+23del