Canonical Allele Identifier: CA2496487389

Gene: NDUFS1

Linked Data

• dbSNP Id: rs1692102236

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206144966_206144967insTATTTAAAGGAAA , CM000664.2:g.206144966_206144967insTATTTAAAGGAAA	GRCh38
NC_000002.11:g.207009690_207009691insTATTTAAAGGAAA , CM000664.1:g.207009690_207009691insTATTTAAAGGAAA	GRCh37
NC_000002.10:g.206717935_206717936insTATTTAAAGGAAA	NCBI36
NG_009248.1:g.19497_19498insTTTCCTTTAAATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.797_798insTTTCCTTTAAATA MANE Select	ENSP00000233190.5:p.Arg266SerfsTer4
ENST00000233190.10:c.797_798insTTTCCTTTAAATA	ENSP00000233190.5:p.Arg266SerfsTer4
ENST00000423725.5:c.626_627insTTTCCTTTAAATA	ENSP00000397760.1:p.Arg209SerfsTer4
ENST00000432169.5:c.464_465insTTTCCTTTAAATA	ENSP00000409689.1:p.Arg155SerfsTer4
ENST00000440274.5:c.689_690insTTTCCTTTAAATA	ENSP00000409766.1:p.Arg230SerfsTer4
ENST00000449699.5:c.797_798insTTTCCTTTAAATA	ENSP00000399912.1:p.Arg266SerfsTer4
ENST00000455934.6:c.839_840insTTTCCTTTAAATA	ENSP00000392709.2:p.Arg280SerfsTer4
ENST00000457011.5:c.449_450insTTTCCTTTAAATA	ENSP00000400976.1:p.Arg150SerfsTer4
NM_001199981.1:c.689_690insTTTCCTTTAAATA	NP_001186910.1:p.Arg230SerfsTer4
NM_001199982.1:c.464_465insTTTCCTTTAAATA	NP_001186911.1:p.Arg155SerfsTer4
NM_001199983.1:c.626_627insTTTCCTTTAAATA	NP_001186912.1:p.Arg209SerfsTer4
NM_001199984.1:c.839_840insTTTCCTTTAAATA	NP_001186913.1:p.Arg280SerfsTer4
NM_005006.6:c.797_798insTTTCCTTTAAATA	NP_004997.4:p.Arg266SerfsTer4
XM_017004188.2:c.38_39insTTTCCTTTAAATA	XP_016859677.1:p.Arg13SerfsTer4
NM_001199981.2:c.689_690insTTTCCTTTAAATA	NP_001186910.1:p.Arg230SerfsTer4
NM_001199982.2:c.464_465insTTTCCTTTAAATA	NP_001186911.1:p.Arg155SerfsTer4
NM_001199983.2:c.626_627insTTTCCTTTAAATA	NP_001186912.1:p.Arg209SerfsTer4
NM_005006.7:c.797_798insTTTCCTTTAAATA MANE Select	NP_004997.4:p.Arg266SerfsTer4
NM_001199984.2:c.839_840insTTTCCTTTAAATA	NP_001186913.1:p.Arg280SerfsTer4