Canonical Allele Identifier: CA763786904
Gene: NDUFS1 HGNC NCBI

Linked Data

dbSNP Id: rs1378207227
gnomAD v3: 2-206122481-TAGCC-T
gnomAD v4: 2-206122481-TAGCC-T
MyVariant Identifiers: chr2:g.206987206_206987209del (hg19) chr2:g.206122482_206122485del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.206122484_206122487del , CM000664.2:g.206122484_206122487del GRCh38
NC_000002.11:g.206987208_206987211del , CM000664.1:g.206987208_206987211del GRCh37
NC_000002.10:g.206695453_206695456del NCBI36
NG_009248.1:g.41979_41982del

Transcript Alleles

HGVS Amino-acid Change
ENST00000233190.11:c.*1700_*1703del MANE Select ENSP00000233190.5:n.*1700_*1703del
ENST00000233190.10:c.*1700_*1703del ENSP00000233190.5:n.*1700_*1703del
NM_001199981.2:c.*1700_*1703del NP_001186910.1:n.*1700_*1703del
NM_001199982.2:c.*1700_*1703del NP_001186911.1:n.*1700_*1703del
NM_001199983.2:c.*1700_*1703del NP_001186912.1:n.*1700_*1703del
NM_005006.7:c.*1700_*1703del MANE Select NP_004997.4:n.*1700_*1703del
NM_001199984.2:c.*1700_*1703del NP_001186913.1:n.*1700_*1703del
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