Canonical Allele Identifier: CA323428
Gene: SURF1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133352103_133352104del , CM000671.2:g.133352103_133352104del GRCh38
NC_000009.10:g.135208779_135208780del NCBI36
NG_008477.1:g.9405_9406del

Transcript Alleles

HGVS Amino-acid Change
ENST00000371974.8:c.792_793del MANE Select ENSP00000361042.3:p.Arg264SerfsTer27
ENST00000371974.7:c.792_793del ENSP00000361042.3:p.Arg264SerfsTer27
ENST00000437995.1:n.702_703del
ENST00000495952.5:n.782_783del
ENST00000615505.4:c.465_466del ENSP00000482067.1:p.Arg155SerfsTer27
NM_001280787.1:c.465_466del NP_001267716.1:p.Arg155SerfsTer27
NM_003172.3:c.792_793del NP_003163.1:p.Arg264SerfsTer27
XM_011518942.1:c.465_466del XP_011517244.1:p.Arg155SerfsTer27
NM_003172.4:c.792_793del MANE Select NP_003163.1:p.Arg264SerfsTer27
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