Canonical Allele Identifier: CA2496479124

Gene: NDUFS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206127915_206127918delinsTAAG , CM000664.2:g.206127915_206127918delinsTAAG	GRCh38
NC_000002.11:g.206992639_206992642delinsTAAG , CM000664.1:g.206992639_206992642delinsTAAG	GRCh37
NC_000002.10:g.206700884_206700887delinsTAAG	NCBI36
NG_009248.1:g.36546_36549delinsCTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.1763_1766delinsCTTA MANE Select	ENSP00000233190.5:p.Ala588=
ENST00000233190.10:c.1763_1766delinsCTTA	ENSP00000233190.5:p.Ala588=
ENST00000423725.5:c.1592_1595delinsCTTA	ENSP00000397760.1:p.Ala531=
ENST00000432169.5:c.1430_1433delinsCTTA	ENSP00000409689.1:p.Ala477=
ENST00000440274.5:c.1655_1658delinsCTTA	ENSP00000409766.1:p.Ala552=
ENST00000449699.5:c.1763_1766delinsCTTA	ENSP00000399912.1:p.Ala588=
ENST00000455934.6:c.1805_1808delinsCTTA	ENSP00000392709.2:p.Ala602=
ENST00000457011.5:c.1415_1418delinsCTTA	ENSP00000400976.1:p.Ala472=
ENST00000498520.1:n.235_238delinsCTTA
NM_001199981.1:c.1655_1658delinsCTTA	NP_001186910.1:p.Ala552=
NM_001199982.1:c.1430_1433delinsCTTA	NP_001186911.1:p.Ala477=
NM_001199983.1:c.1592_1595delinsCTTA	NP_001186912.1:p.Ala531=
NM_001199984.1:c.1805_1808delinsCTTA	NP_001186913.1:p.Ala602=
NM_005006.6:c.1763_1766delinsCTTA	NP_004997.4:p.Ala588=
XM_017004188.2:c.1004_1007delinsCTTA	XP_016859677.1:p.Ala335=
NM_001199981.2:c.1655_1658delinsCTTA	NP_001186910.1:p.Ala552=
NM_001199982.2:c.1430_1433delinsCTTA	NP_001186911.1:p.Ala477=
NM_001199983.2:c.1592_1595delinsCTTA	NP_001186912.1:p.Ala531=
NM_005006.7:c.1763_1766delinsCTTA MANE Select	NP_004997.4:p.Ala588=
NM_001199984.2:c.1805_1808delinsCTTA	NP_001186913.1:p.Ala602=