Canonical Allele Identifier: CA2573053131
Gene: SURF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1320126
ClinVar RCV Id: RCV001775299
dbSNP Id: rs2119081217
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133352602_133352605del , CM000671.2:g.133352602_133352605del GRCh38
NC_000009.10:g.135209278_135209281del NCBI36
NG_008477.1:g.8905_8908del

Transcript Alleles

HGVS Amino-acid Change
ENST00000371974.8:c.595_598del MANE Select ENSP00000361042.3:p.Gly199LysfsTer8
ENST00000371974.7:c.595_598del ENSP00000361042.3:p.Gly199LysfsTer8
ENST00000437995.1:n.505_508del
ENST00000495952.5:n.585_588del
ENST00000615505.4:c.268_271del ENSP00000482067.1:p.Gly90LysfsTer8
NM_001280787.1:c.268_271del NP_001267716.1:p.Gly90LysfsTer8
NM_003172.3:c.595_598del NP_003163.1:p.Gly199LysfsTer8
XM_011518942.1:c.268_271del XP_011517244.1:p.Gly90LysfsTer8
NM_003172.4:c.595_598del MANE Select NP_003163.1:p.Gly199LysfsTer8
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