Canonical Allele Identifier: CA2786166462
Gene: SURF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133352473del , CM000671.2:g.133352473del GRCh38
NC_000009.10:g.135209149del NCBI36
NG_008477.1:g.9034del

Transcript Alleles

HGVS Amino-acid Change
ENST00000371974.8:c.724del MANE Select ENSP00000361042.3:p.Glu242SerfsTer26
ENST00000371974.7:c.724del ENSP00000361042.3:p.Glu242SerfsTer26
ENST00000437995.1:n.634del
ENST00000495952.5:n.714del
ENST00000615505.4:c.397del ENSP00000482067.1:p.Glu133SerfsTer26
NM_001280787.1:c.397del NP_001267716.1:p.Glu133SerfsTer26
NM_003172.3:c.724del NP_003163.1:p.Glu242SerfsTer26
XM_011518942.1:c.397del XP_011517244.1:p.Glu133SerfsTer26
NM_003172.4:c.724del MANE Select NP_003163.1:p.Glu242SerfsTer26