Canonical Allele Identifier: CA2753990740

Gene: NDUFS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206128027_206128028del , CM000664.2:g.206128027_206128028del	GRCh38
NC_000002.11:g.206992751_206992752del , CM000664.1:g.206992751_206992752del	GRCh37
NC_000002.10:g.206700996_206700997del	NCBI36
NG_009248.1:g.36436_36437del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.1709-56_1709-55del MANE Select	ENSP00000233190.5:n.1709-56_1709-55del
ENST00000233190.10:c.1709-56_1709-55del	ENSP00000233190.5:n.1709-56_1709-55del
ENST00000423725.5:c.1538-56_1538-55del	ENSP00000397760.1:n.1538-56_1538-55del
ENST00000432169.5:c.1376-56_1376-55del	ENSP00000409689.1:n.1376-56_1376-55del
ENST00000440274.5:c.1601-56_1601-55del	ENSP00000409766.1:n.1601-56_1601-55del
ENST00000449699.5:c.1709-56_1709-55del	ENSP00000399912.1:n.1709-56_1709-55del
ENST00000455934.6:c.1751-56_1751-55del	ENSP00000392709.2:n.1751-56_1751-55del
ENST00000457011.5:c.1361-56_1361-55del	ENSP00000400976.1:n.1361-56_1361-55del
ENST00000498520.1:n.181-56_181-55del
NM_001199981.1:c.1601-56_1601-55del	NP_001186910.1:n.1601-56_1601-55del
NM_001199982.1:c.1376-56_1376-55del	NP_001186911.1:n.1376-56_1376-55del
NM_001199983.1:c.1538-56_1538-55del	NP_001186912.1:n.1538-56_1538-55del
NM_001199984.1:c.1751-56_1751-55del	NP_001186913.1:n.1751-56_1751-55del
NM_005006.6:c.1709-56_1709-55del	NP_004997.4:n.1709-56_1709-55del
XM_017004188.2:c.950-56_950-55del	XP_016859677.1:n.950-56_950-55del
NM_001199981.2:c.1601-56_1601-55del	NP_001186910.1:n.1601-56_1601-55del
NM_001199982.2:c.1376-56_1376-55del	NP_001186911.1:n.1376-56_1376-55del
NM_001199983.2:c.1538-56_1538-55del	NP_001186912.1:n.1538-56_1538-55del
NM_005006.7:c.1709-56_1709-55del MANE Select	NP_004997.4:n.1709-56_1709-55del
NM_001199984.2:c.1751-56_1751-55del	NP_001186913.1:n.1751-56_1751-55del