Canonical Allele Identifier: CA2607285701

Gene: NDUFS1

Linked Data

• gnomAD v3: 2-206144717-C-CCAATACAAGTATTTGTAT
• gnomAD v4: 2-206144717-C-CCAATACAAGTATTTGTAT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206144717_206144718insCAATACAAGTATTTGTAT , CM000664.2:g.206144717_206144718insCAATACAAGTATTTGTAT	GRCh38
NC_000002.11:g.207009441_207009442insCAATACAAGTATTTGTAT , CM000664.1:g.207009441_207009442insCAATACAAGTATTTGTAT	GRCh37
NC_000002.10:g.206717686_206717687insCAATACAAGTATTTGTAT	NCBI36
NG_009248.1:g.19746_19747insATACAAATACTTGTATTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.872+174_872+175insATACAAATACTTGTATTG MANE Select	ENSP00000233190.5:n.872+174_872+175insATACAAATACTTGTATTG
ENST00000233190.10:c.872+174_872+175insATACAAATACTTGTATTG	ENSP00000233190.5:n.872+174_872+175insATACAAATACTTGTATTG
ENST00000423725.5:c.701+174_701+175insATACAAATACTTGTATTG	ENSP00000397760.1:n.701+174_701+175insATACAAATACTTGTATTG
ENST00000432169.5:c.539+174_539+175insATACAAATACTTGTATTG	ENSP00000409689.1:n.539+174_539+175insATACAAATACTTGTATTG
ENST00000440274.5:c.764+174_764+175insATACAAATACTTGTATTG	ENSP00000409766.1:n.764+174_764+175insATACAAATACTTGTATTG
ENST00000449699.5:c.872+174_872+175insATACAAATACTTGTATTG	ENSP00000399912.1:n.872+174_872+175insATACAAATACTTGTATTG
ENST00000455934.6:c.914+174_914+175insATACAAATACTTGTATTG	ENSP00000392709.2:n.914+174_914+175insATACAAATACTTGTATTG
ENST00000457011.5:c.524+174_524+175insATACAAATACTTGTATTG	ENSP00000400976.1:n.524+174_524+175insATACAAATACTTGTATTG
NM_001199981.1:c.764+174_764+175insATACAAATACTTGTATTG	NP_001186910.1:n.764+174_764+175insATACAAATACTTGTATTG
NM_001199982.1:c.539+174_539+175insATACAAATACTTGTATTG	NP_001186911.1:n.539+174_539+175insATACAAATACTTGTATTG
NM_001199983.1:c.701+174_701+175insATACAAATACTTGTATTG	NP_001186912.1:n.701+174_701+175insATACAAATACTTGTATTG
NM_001199984.1:c.914+174_914+175insATACAAATACTTGTATTG	NP_001186913.1:n.914+174_914+175insATACAAATACTTGTATTG
NM_005006.6:c.872+174_872+175insATACAAATACTTGTATTG	NP_004997.4:n.872+174_872+175insATACAAATACTTGTATTG
XM_017004188.2:c.113+174_113+175insATACAAATACTTGTATTG	XP_016859677.1:n.113+174_113+175insATACAAATACTTGTATTG
NM_001199981.2:c.764+174_764+175insATACAAATACTTGTATTG	NP_001186910.1:n.764+174_764+175insATACAAATACTTGTATTG
NM_001199982.2:c.539+174_539+175insATACAAATACTTGTATTG	NP_001186911.1:n.539+174_539+175insATACAAATACTTGTATTG
NM_001199983.2:c.701+174_701+175insATACAAATACTTGTATTG	NP_001186912.1:n.701+174_701+175insATACAAATACTTGTATTG
NM_005006.7:c.872+174_872+175insATACAAATACTTGTATTG MANE Select	NP_004997.4:n.872+174_872+175insATACAAATACTTGTATTG
NM_001199984.2:c.914+174_914+175insATACAAATACTTGTATTG	NP_001186913.1:n.914+174_914+175insATACAAATACTTGTATTG