Canonical Allele Identifier: CA2753990696
Gene: NDUFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.206127641_206127643del , CM000664.2:g.206127641_206127643del GRCh38
NC_000002.11:g.206992365_206992367del , CM000664.1:g.206992365_206992367del GRCh37
NC_000002.10:g.206700610_206700612del NCBI36
NG_009248.1:g.36821_36823del

Transcript Alleles

HGVS Amino-acid Change
ENST00000233190.11:c.1884+154_1884+156del MANE Select ENSP00000233190.5:n.1884+154_1884+156del
ENST00000233190.10:c.1884+154_1884+156del ENSP00000233190.5:n.1884+154_1884+156del
ENST00000423725.5:c.1713+154_1713+156del ENSP00000397760.1:n.1713+154_1713+156del
ENST00000432169.5:c.1551+154_1551+156del ENSP00000409689.1:n.1551+154_1551+156del
ENST00000440274.5:c.1776+154_1776+156del ENSP00000409766.1:n.1776+154_1776+156del
ENST00000449699.5:c.1884+154_1884+156del ENSP00000399912.1:n.1884+154_1884+156del
ENST00000455934.6:c.1926+154_1926+156del ENSP00000392709.2:n.1926+154_1926+156del
ENST00000457011.5:c.1536+154_1536+156del ENSP00000400976.1:n.1536+154_1536+156del
ENST00000498520.1:n.510_512del
NM_001199981.1:c.1776+154_1776+156del NP_001186910.1:n.1776+154_1776+156del
NM_001199982.1:c.1551+154_1551+156del NP_001186911.1:n.1551+154_1551+156del
NM_001199983.1:c.1713+154_1713+156del NP_001186912.1:n.1713+154_1713+156del
NM_001199984.1:c.1926+154_1926+156del NP_001186913.1:n.1926+154_1926+156del
NM_005006.6:c.1884+154_1884+156del NP_004997.4:n.1884+154_1884+156del
XM_017004188.2:c.1125+154_1125+156del XP_016859677.1:n.1125+154_1125+156del
NM_001199981.2:c.1776+154_1776+156del NP_001186910.1:n.1776+154_1776+156del
NM_001199982.2:c.1551+154_1551+156del NP_001186911.1:n.1551+154_1551+156del
NM_001199983.2:c.1713+154_1713+156del NP_001186912.1:n.1713+154_1713+156del
NM_005006.7:c.1884+154_1884+156del MANE Select NP_004997.4:n.1884+154_1884+156del
NM_001199984.2:c.1926+154_1926+156del NP_001186913.1:n.1926+154_1926+156del