Canonical Allele Identifier: CA2496479041

Gene: NDUFS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206127730_206127732delinsTTC , CM000664.2:g.206127730_206127732delinsTTC	GRCh38
NC_000002.11:g.206992454_206992456delinsTTC , CM000664.1:g.206992454_206992456delinsTTC	GRCh37
NC_000002.10:g.206700699_206700701delinsTTC	NCBI36
NG_009248.1:g.36732_36734delinsGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.1884+65_1884+67delinsGAA MANE Select	ENSP00000233190.5:n.1884+65_1884+67delinsGAA
ENST00000233190.10:c.1884+65_1884+67delinsGAA	ENSP00000233190.5:n.1884+65_1884+67delinsGAA
ENST00000423725.5:c.1713+65_1713+67delinsGAA	ENSP00000397760.1:n.1713+65_1713+67delinsGAA
ENST00000432169.5:c.1551+65_1551+67delinsGAA	ENSP00000409689.1:n.1551+65_1551+67delinsGAA
ENST00000440274.5:c.1776+65_1776+67delinsGAA	ENSP00000409766.1:n.1776+65_1776+67delinsGAA
ENST00000449699.5:c.1884+65_1884+67delinsGAA	ENSP00000399912.1:n.1884+65_1884+67delinsGAA
ENST00000455934.6:c.1926+65_1926+67delinsGAA	ENSP00000392709.2:n.1926+65_1926+67delinsGAA
ENST00000457011.5:c.1536+65_1536+67delinsGAA	ENSP00000400976.1:n.1536+65_1536+67delinsGAA
ENST00000498520.1:n.421_423delinsGAA
NM_001199981.1:c.1776+65_1776+67delinsGAA	NP_001186910.1:n.1776+65_1776+67delinsGAA
NM_001199982.1:c.1551+65_1551+67delinsGAA	NP_001186911.1:n.1551+65_1551+67delinsGAA
NM_001199983.1:c.1713+65_1713+67delinsGAA	NP_001186912.1:n.1713+65_1713+67delinsGAA
NM_001199984.1:c.1926+65_1926+67delinsGAA	NP_001186913.1:n.1926+65_1926+67delinsGAA
NM_005006.6:c.1884+65_1884+67delinsGAA	NP_004997.4:n.1884+65_1884+67delinsGAA
XM_017004188.2:c.1125+65_1125+67delinsGAA	XP_016859677.1:n.1125+65_1125+67delinsGAA
NM_001199981.2:c.1776+65_1776+67delinsGAA	NP_001186910.1:n.1776+65_1776+67delinsGAA
NM_001199982.2:c.1551+65_1551+67delinsGAA	NP_001186911.1:n.1551+65_1551+67delinsGAA
NM_001199983.2:c.1713+65_1713+67delinsGAA	NP_001186912.1:n.1713+65_1713+67delinsGAA
NM_005006.7:c.1884+65_1884+67delinsGAA MANE Select	NP_004997.4:n.1884+65_1884+67delinsGAA
NM_001199984.2:c.1926+65_1926+67delinsGAA	NP_001186913.1:n.1926+65_1926+67delinsGAA