Canonical Allele Identifier: CA539058081

Gene: NDUFS1

Linked Data

• dbSNP Id: rs1163191530
• gnomAD v2: 2-207009573-TTAAA-T
• gnomAD v4: 2-206144849-TTAAA-T
• MyVariant Identifiers: chr2:g.207009574_207009577del (hg19) ; chr2:g.206144850_206144853del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206144854_206144857del , CM000664.2:g.206144854_206144857del	GRCh38
NC_000002.11:g.207009578_207009581del , CM000664.1:g.207009578_207009581del	GRCh37
NC_000002.10:g.206717823_206717826del	NCBI36
NG_009248.1:g.19611_19614del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.872+39_872+42del MANE Select	ENSP00000233190.5:n.872+39_872+42del
ENST00000233190.10:c.872+39_872+42del	ENSP00000233190.5:n.872+39_872+42del
ENST00000423725.5:c.701+39_701+42del	ENSP00000397760.1:n.701+39_701+42del
ENST00000432169.5:c.539+39_539+42del	ENSP00000409689.1:n.539+39_539+42del
ENST00000440274.5:c.764+39_764+42del	ENSP00000409766.1:n.764+39_764+42del
ENST00000449699.5:c.872+39_872+42del	ENSP00000399912.1:n.872+39_872+42del
ENST00000455934.6:c.914+39_914+42del	ENSP00000392709.2:n.914+39_914+42del
ENST00000457011.5:c.524+39_524+42del	ENSP00000400976.1:n.524+39_524+42del
NM_001199981.1:c.764+39_764+42del	NP_001186910.1:n.764+39_764+42del
NM_001199982.1:c.539+39_539+42del	NP_001186911.1:n.539+39_539+42del
NM_001199983.1:c.701+39_701+42del	NP_001186912.1:n.701+39_701+42del
NM_001199984.1:c.914+39_914+42del	NP_001186913.1:n.914+39_914+42del
NM_005006.6:c.872+39_872+42del	NP_004997.4:n.872+39_872+42del
XM_017004188.2:c.113+39_113+42del	XP_016859677.1:n.113+39_113+42del
NM_001199981.2:c.764+39_764+42del	NP_001186910.1:n.764+39_764+42del
NM_001199982.2:c.539+39_539+42del	NP_001186911.1:n.539+39_539+42del
NM_001199983.2:c.701+39_701+42del	NP_001186912.1:n.701+39_701+42del
NM_005006.7:c.872+39_872+42del MANE Select	NP_004997.4:n.872+39_872+42del
NM_001199984.2:c.914+39_914+42del	NP_001186913.1:n.914+39_914+42del