Canonical Allele Identifier: CA2753990695

Gene: NDUFS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206127633_206127634insTAC , CM000664.2:g.206127633_206127634insTAC	GRCh38
NC_000002.11:g.206992357_206992358insTAC , CM000664.1:g.206992357_206992358insTAC	GRCh37
NC_000002.10:g.206700602_206700603insTAC	NCBI36
NG_009248.1:g.36830_36831insGTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.1884+163_1884+164insGTA MANE Select	ENSP00000233190.5:n.1884+163_1884+164insGTA
ENST00000233190.10:c.1884+163_1884+164insGTA	ENSP00000233190.5:n.1884+163_1884+164insGTA
ENST00000423725.5:c.1713+163_1713+164insGTA	ENSP00000397760.1:n.1713+163_1713+164insGTA
ENST00000432169.5:c.1551+163_1551+164insGTA	ENSP00000409689.1:n.1551+163_1551+164insGTA
ENST00000440274.5:c.1776+163_1776+164insGTA	ENSP00000409766.1:n.1776+163_1776+164insGTA
ENST00000449699.5:c.1884+163_1884+164insGTA	ENSP00000399912.1:n.1884+163_1884+164insGTA
ENST00000455934.6:c.1926+163_1926+164insGTA	ENSP00000392709.2:n.1926+163_1926+164insGTA
ENST00000457011.5:c.1536+163_1536+164insGTA	ENSP00000400976.1:n.1536+163_1536+164insGTA
ENST00000498520.1:n.519_520insGTA
NM_001199981.1:c.1776+163_1776+164insGTA	NP_001186910.1:n.1776+163_1776+164insGTA
NM_001199982.1:c.1551+163_1551+164insGTA	NP_001186911.1:n.1551+163_1551+164insGTA
NM_001199983.1:c.1713+163_1713+164insGTA	NP_001186912.1:n.1713+163_1713+164insGTA
NM_001199984.1:c.1926+163_1926+164insGTA	NP_001186913.1:n.1926+163_1926+164insGTA
NM_005006.6:c.1884+163_1884+164insGTA	NP_004997.4:n.1884+163_1884+164insGTA
XM_017004188.2:c.1125+163_1125+164insGTA	XP_016859677.1:n.1125+163_1125+164insGTA
NM_001199981.2:c.1776+163_1776+164insGTA	NP_001186910.1:n.1776+163_1776+164insGTA
NM_001199982.2:c.1551+163_1551+164insGTA	NP_001186911.1:n.1551+163_1551+164insGTA
NM_001199983.2:c.1713+163_1713+164insGTA	NP_001186912.1:n.1713+163_1713+164insGTA
NM_005006.7:c.1884+163_1884+164insGTA MANE Select	NP_004997.4:n.1884+163_1884+164insGTA
NM_001199984.2:c.1926+163_1926+164insGTA	NP_001186913.1:n.1926+163_1926+164insGTA