Canonical Allele Identifier: CA63645592

Gene: NDUFS1

Linked Data

• dbSNP Id: rs773388485
• MyVariant Identifiers: chr2:g.206988001_206988002del (hg19) ; chr2:g.206123277_206123278del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206123277_206123278del , CM000664.2:g.206123277_206123278del	GRCh38
NC_000002.11:g.206988001_206988002del , CM000664.1:g.206988001_206988002del	GRCh37
NC_000002.10:g.206696246_206696247del	NCBI36
NG_009248.1:g.41186_41187del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.*907_*908del MANE Select	ENSP00000233190.5:n.*907_*908del
ENST00000233190.10:c.*907_*908del	ENSP00000233190.5:n.*907_*908del
ENST00000455934.6:c.*907_*908del	ENSP00000392709.2:n.*907_*908del
NM_001199981.1:c.*907_*908del	NP_001186910.1:n.*907_*908del
NM_001199982.1:c.*907_*908del	NP_001186911.1:n.*907_*908del
NM_001199983.1:c.*907_*908del	NP_001186912.1:n.*907_*908del
NM_001199984.1:c.*907_*908del	NP_001186913.1:n.*907_*908del
NM_005006.6:c.*907_*908del	NP_004997.4:n.*907_*908del
NM_001199981.2:c.*907_*908del	NP_001186910.1:n.*907_*908del
NM_001199982.2:c.*907_*908del	NP_001186911.1:n.*907_*908del
NM_001199983.2:c.*907_*908del	NP_001186912.1:n.*907_*908del
NM_005006.7:c.*907_*908del MANE Select	NP_004997.4:n.*907_*908del
NM_001199984.2:c.*907_*908del	NP_001186913.1:n.*907_*908del