Canonical Allele Identifier: CA600237186

Gene: NDUFV1

Linked Data

• dbSNP Id: rs1282179335
• gnomAD v2: 11-67378898-ACCT-A
• gnomAD v3: 11-67611427-ACCT-A
• gnomAD v4: 11-67611427-ACCT-A
• MyVariant Identifiers: chr11:g.67378899_67378901del (hg19) ; chr11:g.67611428_67611430del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67611431_67611433del , CM000673.2:g.67611431_67611433del	GRCh38
NC_000011.9:g.67378902_67378904del , CM000673.1:g.67378902_67378904del	GRCh37
NC_000011.8:g.67135478_67135480del	NCBI36
NG_013353.1:g.9580_9582del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.942_944del MANE Select	ENSP00000322450.6:p.Leu315del
ENST00000647561.1:c.942_944del	ENSP00000497587.1:p.Leu315del
ENST00000322776.10:c.942_944del	ENSP00000322450.6:p.Leu315del
ENST00000415352.6:c.921_923del	ENSP00000395368.2:p.Leu308del
ENST00000526169.1:n.656-91_656-89del
ENST00000526770.5:n.1225_1227del
ENST00000527355.5:c.231_233del	ENSP00000432637.1:p.Leu78del
ENST00000527923.1:n.284_286del
ENST00000529927.5:c.915_917del	ENSP00000436766.1:p.Leu306del
ENST00000532303.5:c.639_641del	ENSP00000432015.1:p.Leu214del
ENST00000533919.5:c.392-46_392-44del	ENSP00000435199.1:n.392-46_392-44del
NM_001166102.1:c.915_917del	NP_001159574.1:p.Leu306del
NM_007103.3:c.942_944del	NP_009034.2:p.Leu315del
NM_001166102.2:c.915_917del	NP_001159574.1:p.Leu306del
NM_007103.4:c.942_944del MANE Select	NP_009034.2:p.Leu315del