Canonical Allele Identifier: CA2695211601
Gene: SURF1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133353793_133353794del , CM000671.2:g.133353793_133353794del GRCh38
NC_000009.10:g.135210469_135210470del NCBI36
NG_008477.1:g.7715_7716del

Transcript Alleles

HGVS Amino-acid change
ENST00000371974.8:c.472_473del MANE Select ENSP00000361042.3:p.Ser158TrpfsTer21
ENST00000371974.7:c.472_473del ENSP00000361042.3:p.Ser158TrpfsTer21
ENST00000437995.1:n.418_419del
ENST00000495952.5:n.462_463del
ENST00000615505.4:c.145_146del ENSP00000482067.1:p.Ser49TrpfsTer21
NM_001280787.1:c.145_146del NP_001267716.1:p.Ser49TrpfsTer21
NM_003172.3:c.472_473del NP_003163.1:p.Ser158TrpfsTer21
XM_011518942.1:c.145_146del XP_011517244.1:p.Ser49TrpfsTer21
NM_003172.4:c.472_473del MANE Select NP_003163.1:p.Ser158TrpfsTer21
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