Canonical Allele Identifier: CA2662803882

Gene: NDUFS1

Linked Data

• gnomAD v4: 2-206144908-TCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206144909_206144910del , CM000664.2:g.206144909_206144910del	GRCh38
NC_000002.11:g.207009633_207009634del , CM000664.1:g.207009633_207009634del	GRCh37
NC_000002.10:g.206717878_206717879del	NCBI36
NG_009248.1:g.19554_19555del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.854_855del MANE Select	ENSP00000233190.5:p.Trp285TyrfsTer3
ENST00000233190.10:c.854_855del	ENSP00000233190.5:p.Trp285TyrfsTer3
ENST00000423725.5:c.683_684del	ENSP00000397760.1:p.Trp228TyrfsTer3
ENST00000432169.5:c.521_522del	ENSP00000409689.1:p.Trp174TyrfsTer3
ENST00000440274.5:c.746_747del	ENSP00000409766.1:p.Trp249TyrfsTer3
ENST00000449699.5:c.854_855del	ENSP00000399912.1:p.Trp285TyrfsTer3
ENST00000455934.6:c.896_897del	ENSP00000392709.2:p.Trp299TyrfsTer3
ENST00000457011.5:c.506_507del	ENSP00000400976.1:p.Trp169TyrfsTer3
NM_001199981.1:c.746_747del	NP_001186910.1:p.Trp249TyrfsTer3
NM_001199982.1:c.521_522del	NP_001186911.1:p.Trp174TyrfsTer3
NM_001199983.1:c.683_684del	NP_001186912.1:p.Trp228TyrfsTer3
NM_001199984.1:c.896_897del	NP_001186913.1:p.Trp299TyrfsTer3
NM_005006.6:c.854_855del	NP_004997.4:p.Trp285TyrfsTer3
XM_017004188.2:c.95_96del	XP_016859677.1:p.Trp32TyrfsTer3
NM_001199981.2:c.746_747del	NP_001186910.1:p.Trp249TyrfsTer3
NM_001199982.2:c.521_522del	NP_001186911.1:p.Trp174TyrfsTer3
NM_001199983.2:c.683_684del	NP_001186912.1:p.Trp228TyrfsTer3
NM_005006.7:c.854_855del MANE Select	NP_004997.4:p.Trp285TyrfsTer3
NM_001199984.2:c.896_897del	NP_001186913.1:p.Trp299TyrfsTer3