Canonical Allele Identifier: CA2753990721

Gene: NDUFS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206128003_206128004insAACCAAACACACCCAACACA , CM000664.2:g.206128003_206128004insAACCAAACACACCCAACACA	GRCh38
NC_000002.11:g.206992727_206992728insAACCAAACACACCCAACACA , CM000664.1:g.206992727_206992728insAACCAAACACACCCAACACA	GRCh37
NC_000002.10:g.206700972_206700973insAACCAAACACACCCAACACA	NCBI36
NG_009248.1:g.36461_36462insGTGTTGGGTGTGTTTGGTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.1709-31_1709-30insGTGTTGGGTGTGTTTGGTTT MANE Select	ENSP00000233190.5:n.1709-31_1709-30insGTGTTGGGTGTGTTTGGTTT
ENST00000233190.10:c.1709-31_1709-30insGTGTTGGGTGTGTTTGGTTT	ENSP00000233190.5:n.1709-31_1709-30insGTGTTGGGTGTGTTTGGTTT
ENST00000423725.5:c.1538-31_1538-30insGTGTTGGGTGTGTTTGGTTT	ENSP00000397760.1:n.1538-31_1538-30insGTGTTGGGTGTGTTTGGTTT
ENST00000432169.5:c.1376-31_1376-30insGTGTTGGGTGTGTTTGGTTT	ENSP00000409689.1:n.1376-31_1376-30insGTGTTGGGTGTGTTTGGTTT
ENST00000440274.5:c.1601-31_1601-30insGTGTTGGGTGTGTTTGGTTT	ENSP00000409766.1:n.1601-31_1601-30insGTGTTGGGTGTGTTTGGTTT
ENST00000449699.5:c.1709-31_1709-30insGTGTTGGGTGTGTTTGGTTT	ENSP00000399912.1:n.1709-31_1709-30insGTGTTGGGTGTGTTTGGTTT
ENST00000455934.6:c.1751-31_1751-30insGTGTTGGGTGTGTTTGGTTT	ENSP00000392709.2:n.1751-31_1751-30insGTGTTGGGTGTGTTTGGTTT
ENST00000457011.5:c.1361-31_1361-30insGTGTTGGGTGTGTTTGGTTT	ENSP00000400976.1:n.1361-31_1361-30insGTGTTGGGTGTGTTTGGTTT
ENST00000498520.1:n.181-31_181-30insGTGTTGGGTGTGTTTGGTTT
NM_001199981.1:c.1601-31_1601-30insGTGTTGGGTGTGTTTGGTTT	NP_001186910.1:n.1601-31_1601-30insGTGTTGGGTGTGTTTGGTTT
NM_001199982.1:c.1376-31_1376-30insGTGTTGGGTGTGTTTGGTTT	NP_001186911.1:n.1376-31_1376-30insGTGTTGGGTGTGTTTGGTTT
NM_001199983.1:c.1538-31_1538-30insGTGTTGGGTGTGTTTGGTTT	NP_001186912.1:n.1538-31_1538-30insGTGTTGGGTGTGTTTGGTTT
NM_001199984.1:c.1751-31_1751-30insGTGTTGGGTGTGTTTGGTTT	NP_001186913.1:n.1751-31_1751-30insGTGTTGGGTGTGTTTGGTTT
NM_005006.6:c.1709-31_1709-30insGTGTTGGGTGTGTTTGGTTT	NP_004997.4:n.1709-31_1709-30insGTGTTGGGTGTGTTTGGTTT
XM_017004188.2:c.950-31_950-30insGTGTTGGGTGTGTTTGGTTT	XP_016859677.1:n.950-31_950-30insGTGTTGGGTGTGTTTGGTTT
NM_001199981.2:c.1601-31_1601-30insGTGTTGGGTGTGTTTGGTTT	NP_001186910.1:n.1601-31_1601-30insGTGTTGGGTGTGTTTGGTTT
NM_001199982.2:c.1376-31_1376-30insGTGTTGGGTGTGTTTGGTTT	NP_001186911.1:n.1376-31_1376-30insGTGTTGGGTGTGTTTGGTTT
NM_001199983.2:c.1538-31_1538-30insGTGTTGGGTGTGTTTGGTTT	NP_001186912.1:n.1538-31_1538-30insGTGTTGGGTGTGTTTGGTTT
NM_005006.7:c.1709-31_1709-30insGTGTTGGGTGTGTTTGGTTT MANE Select	NP_004997.4:n.1709-31_1709-30insGTGTTGGGTGTGTTTGGTTT
NM_001199984.2:c.1751-31_1751-30insGTGTTGGGTGTGTTTGGTTT	NP_001186913.1:n.1751-31_1751-30insGTGTTGGGTGTGTTTGGTTT