Canonical Allele Identifier: CA2662802259
Gene: NDUFS1 HGNC NCBI

Linked Data

gnomAD v4: 2-206122306-TA-T
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.206122310del , CM000664.2:g.206122310del GRCh38
NC_000002.11:g.206987034del , CM000664.1:g.206987034del GRCh37
NC_000002.10:g.206695279del NCBI36
NG_009248.1:g.42157del

Transcript Alleles

HGVS Amino-acid Change
ENST00000233190.11:c.*1878del MANE Select ENSP00000233190.5:n.*1878del
ENST00000233190.10:c.*1878del ENSP00000233190.5:n.*1878del
NM_001199981.2:c.*1878del NP_001186910.1:n.*1878del
NM_001199982.2:c.*1878del NP_001186911.1:n.*1878del
NM_001199983.2:c.*1878del NP_001186912.1:n.*1878del
NM_005006.7:c.*1878del MANE Select NP_004997.4:n.*1878del
NM_001199984.2:c.*1878del NP_001186913.1:n.*1878del
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