Canonical Allele Identifier: CA2607285700

Gene: NDUFS1

Linked Data

• gnomAD v3: 2-206144716-C-CTAGTATTTGTATTGGGATTGA
• gnomAD v4: 2-206144716-C-CTAGTATTTGTATTGGGATTGA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206144716_206144717insTAGTATTTGTATTGGGATTGA , CM000664.2:g.206144716_206144717insTAGTATTTGTATTGGGATTGA	GRCh38
NC_000002.11:g.207009440_207009441insTAGTATTTGTATTGGGATTGA , CM000664.1:g.207009440_207009441insTAGTATTTGTATTGGGATTGA	GRCh37
NC_000002.10:g.206717685_206717686insTAGTATTTGTATTGGGATTGA	NCBI36
NG_009248.1:g.19747_19748insTCAATCCCAATACAAATACTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.872+175_872+176insTCAATCCCAATACAAATACTA MANE Select	ENSP00000233190.5:n.872+175_872+176insTCAATCCCAATACAAATACTA
ENST00000233190.10:c.872+175_872+176insTCAATCCCAATACAAATACTA	ENSP00000233190.5:n.872+175_872+176insTCAATCCCAATACAAATACTA
ENST00000423725.5:c.701+175_701+176insTCAATCCCAATACAAATACTA	ENSP00000397760.1:n.701+175_701+176insTCAATCCCAATACAAATACTA
ENST00000432169.5:c.539+175_539+176insTCAATCCCAATACAAATACTA	ENSP00000409689.1:n.539+175_539+176insTCAATCCCAATACAAATACTA
ENST00000440274.5:c.764+175_764+176insTCAATCCCAATACAAATACTA	ENSP00000409766.1:n.764+175_764+176insTCAATCCCAATACAAATACTA
ENST00000449699.5:c.872+175_872+176insTCAATCCCAATACAAATACTA	ENSP00000399912.1:n.872+175_872+176insTCAATCCCAATACAAATACTA
ENST00000455934.6:c.914+175_914+176insTCAATCCCAATACAAATACTA	ENSP00000392709.2:n.914+175_914+176insTCAATCCCAATACAAATACTA
ENST00000457011.5:c.524+175_524+176insTCAATCCCAATACAAATACTA	ENSP00000400976.1:n.524+175_524+176insTCAATCCCAATACAAATACTA
NM_001199981.1:c.764+175_764+176insTCAATCCCAATACAAATACTA	NP_001186910.1:n.764+175_764+176insTCAATCCCAATACAAATACTA
NM_001199982.1:c.539+175_539+176insTCAATCCCAATACAAATACTA	NP_001186911.1:n.539+175_539+176insTCAATCCCAATACAAATACTA
NM_001199983.1:c.701+175_701+176insTCAATCCCAATACAAATACTA	NP_001186912.1:n.701+175_701+176insTCAATCCCAATACAAATACTA
NM_001199984.1:c.914+175_914+176insTCAATCCCAATACAAATACTA	NP_001186913.1:n.914+175_914+176insTCAATCCCAATACAAATACTA
NM_005006.6:c.872+175_872+176insTCAATCCCAATACAAATACTA	NP_004997.4:n.872+175_872+176insTCAATCCCAATACAAATACTA
XM_017004188.2:c.113+175_113+176insTCAATCCCAATACAAATACTA	XP_016859677.1:n.113+175_113+176insTCAATCCCAATACAAATACTA
NM_001199981.2:c.764+175_764+176insTCAATCCCAATACAAATACTA	NP_001186910.1:n.764+175_764+176insTCAATCCCAATACAAATACTA
NM_001199982.2:c.539+175_539+176insTCAATCCCAATACAAATACTA	NP_001186911.1:n.539+175_539+176insTCAATCCCAATACAAATACTA
NM_001199983.2:c.701+175_701+176insTCAATCCCAATACAAATACTA	NP_001186912.1:n.701+175_701+176insTCAATCCCAATACAAATACTA
NM_005006.7:c.872+175_872+176insTCAATCCCAATACAAATACTA MANE Select	NP_004997.4:n.872+175_872+176insTCAATCCCAATACAAATACTA
NM_001199984.2:c.914+175_914+176insTCAATCCCAATACAAATACTA	NP_001186913.1:n.914+175_914+176insTCAATCCCAATACAAATACTA