Canonical Allele Identifier: CA2695211589
Gene: SURF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133352509_133352515del , CM000671.2:g.133352509_133352515del GRCh38
NC_000009.10:g.135209185_135209191del NCBI36
NG_008477.1:g.8992_8998del

Transcript Alleles

HGVS Amino-acid Change
ENST00000371974.8:c.682_688del MANE Select ENSP00000361042.3:p.His228GlufsTer?
ENST00000371974.7:c.682_688del ENSP00000361042.3:p.His228GlufsTer?
ENST00000437995.1:n.592_598del
ENST00000495952.5:n.672_678del
ENST00000615505.4:c.355_361del ENSP00000482067.1:p.His119GlufsTer?
NM_001280787.1:c.355_361del NP_001267716.1:p.His119GlufsTer?
NM_003172.3:c.682_688del NP_003163.1:p.His228GlufsTer?
XM_011518942.1:c.355_361del XP_011517244.1:p.His119GlufsTer?
NM_003172.4:c.682_688del MANE Select NP_003163.1:p.His228GlufsTer?