Canonical Allele Identifier: CA2662803869

Gene: NDUFS1

Linked Data

• gnomAD v4: 2-206144863-AAAGTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206144867_206144871del , CM000664.2:g.206144867_206144871del	GRCh38
NC_000002.11:g.207009591_207009595del , CM000664.1:g.207009591_207009595del	GRCh37
NC_000002.10:g.206717836_206717840del	NCBI36
NG_009248.1:g.19596_19600del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.872+24_872+28del MANE Select	ENSP00000233190.5:n.872+24_872+28del
ENST00000233190.10:c.872+24_872+28del	ENSP00000233190.5:n.872+24_872+28del
ENST00000423725.5:c.701+24_701+28del	ENSP00000397760.1:n.701+24_701+28del
ENST00000432169.5:c.539+24_539+28del	ENSP00000409689.1:n.539+24_539+28del
ENST00000440274.5:c.764+24_764+28del	ENSP00000409766.1:n.764+24_764+28del
ENST00000449699.5:c.872+24_872+28del	ENSP00000399912.1:n.872+24_872+28del
ENST00000455934.6:c.914+24_914+28del	ENSP00000392709.2:n.914+24_914+28del
ENST00000457011.5:c.524+24_524+28del	ENSP00000400976.1:n.524+24_524+28del
NM_001199981.1:c.764+24_764+28del	NP_001186910.1:n.764+24_764+28del
NM_001199982.1:c.539+24_539+28del	NP_001186911.1:n.539+24_539+28del
NM_001199983.1:c.701+24_701+28del	NP_001186912.1:n.701+24_701+28del
NM_001199984.1:c.914+24_914+28del	NP_001186913.1:n.914+24_914+28del
NM_005006.6:c.872+24_872+28del	NP_004997.4:n.872+24_872+28del
XM_017004188.2:c.113+24_113+28del	XP_016859677.1:n.113+24_113+28del
NM_001199981.2:c.764+24_764+28del	NP_001186910.1:n.764+24_764+28del
NM_001199982.2:c.539+24_539+28del	NP_001186911.1:n.539+24_539+28del
NM_001199983.2:c.701+24_701+28del	NP_001186912.1:n.701+24_701+28del
NM_005006.7:c.872+24_872+28del MANE Select	NP_004997.4:n.872+24_872+28del
NM_001199984.2:c.914+24_914+28del	NP_001186913.1:n.914+24_914+28del