Canonical Allele Identifier: CA2753990709

Gene: NDUFS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206127966_206127967insACA , CM000664.2:g.206127966_206127967insACA	GRCh38
NC_000002.11:g.206992690_206992691insACA , CM000664.1:g.206992690_206992691insACA	GRCh37
NC_000002.10:g.206700935_206700936insACA	NCBI36
NG_009248.1:g.36497_36498insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.1714_1715insTGT MANE Select	ENSP00000233190.5:p.His572delinsLeuTyr
ENST00000233190.10:c.1714_1715insTGT	ENSP00000233190.5:p.His572delinsLeuTyr
ENST00000423725.5:c.1543_1544insTGT	ENSP00000397760.1:p.His515delinsLeuTyr
ENST00000432169.5:c.1381_1382insTGT	ENSP00000409689.1:p.His461delinsLeuTyr
ENST00000440274.5:c.1606_1607insTGT	ENSP00000409766.1:p.His536delinsLeuTyr
ENST00000449699.5:c.1714_1715insTGT	ENSP00000399912.1:p.His572delinsLeuTyr
ENST00000455934.6:c.1756_1757insTGT	ENSP00000392709.2:p.His586delinsLeuTyr
ENST00000457011.5:c.1366_1367insTGT	ENSP00000400976.1:p.His456delinsLeuTyr
ENST00000498520.1:n.186_187insTGT
NM_001199981.1:c.1606_1607insTGT	NP_001186910.1:p.His536delinsLeuTyr
NM_001199982.1:c.1381_1382insTGT	NP_001186911.1:p.His461delinsLeuTyr
NM_001199983.1:c.1543_1544insTGT	NP_001186912.1:p.His515delinsLeuTyr
NM_001199984.1:c.1756_1757insTGT	NP_001186913.1:p.His586delinsLeuTyr
NM_005006.6:c.1714_1715insTGT	NP_004997.4:p.His572delinsLeuTyr
XM_017004188.2:c.955_956insTGT	XP_016859677.1:p.His319delinsLeuTyr
NM_001199981.2:c.1606_1607insTGT	NP_001186910.1:p.His536delinsLeuTyr
NM_001199982.2:c.1381_1382insTGT	NP_001186911.1:p.His461delinsLeuTyr
NM_001199983.2:c.1543_1544insTGT	NP_001186912.1:p.His515delinsLeuTyr
NM_005006.7:c.1714_1715insTGT MANE Select	NP_004997.4:p.His572delinsLeuTyr
NM_001199984.2:c.1756_1757insTGT	NP_001186913.1:p.His586delinsLeuTyr