Canonical Allele Identifier: CA2614647427

Gene: NDUFV1

Linked Data

• gnomAD v4: 11-67610409-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67610410del , CM000673.2:g.67610410del	GRCh38
NC_000011.9:g.67377881del , CM000673.1:g.67377881del	GRCh37
NC_000011.8:g.67134457del	NCBI36
NG_013353.1:g.8559del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.540del MANE Select	ENSP00000322450.6:p.Leu181Ter
ENST00000647561.1:c.540del	ENSP00000497587.1:p.Leu181Ter
ENST00000322776.10:c.540del	ENSP00000322450.6:p.Leu181Ter
ENST00000415352.6:c.519del	ENSP00000395368.2:p.Leu174Ter
ENST00000526169.1:n.282del
ENST00000526770.5:n.399del
ENST00000529867.5:c.504del	ENSP00000434438.1:p.Leu169Ter
ENST00000529927.5:c.513del	ENSP00000436766.1:p.Leu172Ter
ENST00000530638.1:c.423del	ENSP00000436936.1:p.Leu142Ter
ENST00000532244.5:c.237del	ENSP00000435202.1:p.Leu80Ter
ENST00000532303.5:c.237del	ENSP00000432015.1:p.Leu80Ter
ENST00000532343.5:c.237del	ENSP00000431751.1:p.Leu80Ter
ENST00000533075.5:c.519del	ENSP00000437267.1:p.Leu174Ter
ENST00000533919.5:c.18del	ENSP00000435199.1:p.Leu7Ter
NM_001166102.1:c.513del	NP_001159574.1:p.Leu172Ter
NM_007103.3:c.540del	NP_009034.2:p.Leu181Ter
NM_001166102.2:c.513del	NP_001159574.1:p.Leu172Ter
NM_007103.4:c.540del MANE Select	NP_009034.2:p.Leu181Ter