Canonical Allele Identifier: CA3045837303

Gene: NDUFV1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67611982_67611983insCTGGATGAACAAGGTGATG , CM000673.2:g.67611982_67611983insCTGGATGAACAAGGTGATG	GRCh38
NC_000011.9:g.67379453_67379454insCTGGATGAACAAGGTGATG , CM000673.1:g.67379453_67379454insCTGGATGAACAAGGTGATG	GRCh37
NC_000011.8:g.67136029_67136030insCTGGATGAACAAGGTGATG	NCBI36
NG_013353.1:g.10131_10132insCTGGATGAACAAGGTGATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.1162+4_1162+5insCTGGATGAACAAGGTGATG MANE Select	ENSP00000322450.6:n.1162+4_1162+5insCTGGATGAACAAGGTGATG
ENST00000647561.1:c.1162+4_1162+5insCTGGATGAACAAGGTGATG	ENSP00000497587.1:n.1162+4_1162+5insCTGGATGAACAAGGTGATG
ENST00000322776.10:c.1162+4_1162+5insCTGGATGAACAAGGTGATG	ENSP00000322450.6:n.1162+4_1162+5insCTGGATGAACAAGGTGATG
ENST00000415352.6:c.1141+4_1141+5insCTGGATGAACAAGGTGATG	ENSP00000395368.2:n.1141+4_1141+5insCTGGATGAACAAGGTGATG
ENST00000526770.5:n.1445+4_1445+5insCTGGATGAACAAGGTGATG
ENST00000527355.5:c.370-138_370-137insCTGGATGAACAAGGTGATG	ENSP00000432637.1:n.370-138_370-137insCTGGATGAACAAGGTGATG
ENST00000527923.1:n.504+4_504+5insCTGGATGAACAAGGTGATG
ENST00000529927.5:c.1135+4_1135+5insCTGGATGAACAAGGTGATG	ENSP00000436766.1:n.1135+4_1135+5insCTGGATGAACAAGGTGATG
ENST00000531250.1:n.426+4_426+5insCTGGATGAACAAGGTGATG
ENST00000532303.5:c.859+4_859+5insCTGGATGAACAAGGTGATG	ENSP00000432015.1:n.859+4_859+5insCTGGATGAACAAGGTGATG
ENST00000533919.5:c.566+4_566+5insCTGGATGAACAAGGTGATG	ENSP00000435199.1:n.566+4_566+5insCTGGATGAACAAGGTGATG
ENST00000534352.1:n.264_265insCTGGATGAACAAGGTGATG
NM_001166102.1:c.1135+4_1135+5insCTGGATGAACAAGGTGATG	NP_001159574.1:n.1135+4_1135+5insCTGGATGAACAAGGTGATG
NM_007103.3:c.1162+4_1162+5insCTGGATGAACAAGGTGATG	NP_009034.2:n.1162+4_1162+5insCTGGATGAACAAGGTGATG
NM_001166102.2:c.1135+4_1135+5insCTGGATGAACAAGGTGATG	NP_001159574.1:n.1135+4_1135+5insCTGGATGAACAAGGTGATG
NM_007103.4:c.1162+4_1162+5insCTGGATGAACAAGGTGATG MANE Select	NP_009034.2:n.1162+4_1162+5insCTGGATGAACAAGGTGATG