Canonical Allele Identifier: CA16042678
Gene: SURF1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133352137_133352138del , CM000671.2:g.133352137_133352138del GRCh38
NC_000009.10:g.135208813_135208814del NCBI36
NG_008477.1:g.9371_9372del

Transcript Alleles

HGVS Amino-acid Change
ENST00000371974.8:c.758_759del MANE Select ENSP00000361042.3:p.Thr253SerfsTer?
ENST00000371974.7:c.758_759del ENSP00000361042.3:p.Thr253SerfsTer?
ENST00000437995.1:n.668_669del
ENST00000495952.5:n.748_749del
ENST00000615505.4:c.431_432del ENSP00000482067.1:p.Thr144SerfsTer?
NM_001280787.1:c.431_432del NP_001267716.1:p.Thr144SerfsTer?
NM_003172.3:c.758_759del NP_003163.1:p.Thr253SerfsTer?
XM_011518942.1:c.431_432del XP_011517244.1:p.Thr144SerfsTer?
NM_003172.4:c.758_759del MANE Select NP_003163.1:p.Thr253SerfsTer?
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