Canonical Allele Identifier: CA2614647307

Gene: NDUFV1

Linked Data

• gnomAD v4: 11-67610263-TACCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67610264_67610267del , CM000673.2:g.67610264_67610267del	GRCh38
NC_000011.9:g.67377735_67377738del , CM000673.1:g.67377735_67377738del	GRCh37
NC_000011.8:g.67134311_67134314del	NCBI36
NG_013353.1:g.8413_8416del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.511-117_511-114del MANE Select	ENSP00000322450.6:n.511-117_511-114del
ENST00000647561.1:c.511-117_511-114del	ENSP00000497587.1:n.511-117_511-114del
ENST00000322776.10:c.511-117_511-114del	ENSP00000322450.6:n.511-117_511-114del
ENST00000415352.6:c.490-117_490-114del	ENSP00000395368.2:n.490-117_490-114del
ENST00000524838.5:n.1196_1199del
ENST00000526169.1:n.253-117_253-114del
ENST00000526770.5:n.370-117_370-114del
ENST00000529867.5:c.475-117_475-114del	ENSP00000434438.1:n.475-117_475-114del
ENST00000529927.5:c.484-117_484-114del	ENSP00000436766.1:n.484-117_484-114del
ENST00000530638.1:c.394-117_394-114del	ENSP00000436936.1:n.394-117_394-114del
ENST00000532244.5:c.208-117_208-114del	ENSP00000435202.1:n.208-117_208-114del
ENST00000532303.5:c.208-117_208-114del	ENSP00000432015.1:n.208-117_208-114del
ENST00000532343.5:c.208-117_208-114del	ENSP00000431751.1:n.208-117_208-114del
ENST00000533075.5:c.490-117_490-114del	ENSP00000437267.1:n.490-117_490-114del
NM_001166102.1:c.484-117_484-114del	NP_001159574.1:n.484-117_484-114del
NM_007103.3:c.511-117_511-114del	NP_009034.2:n.511-117_511-114del
NM_001166102.2:c.484-117_484-114del	NP_001159574.1:n.484-117_484-114del
NM_007103.4:c.511-117_511-114del MANE Select	NP_009034.2:n.511-117_511-114del