Canonical Allele Identifier: CA2786166146
Gene: SURF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133352540del , CM000671.2:g.133352540del GRCh38
NC_000009.10:g.135209216del NCBI36
NG_008477.1:g.8967del

Transcript Alleles

HGVS Amino-acid Change
ENST00000371974.8:c.657del MANE Select ENSP00000361042.3:p.Asn220ThrfsTer?
ENST00000371974.7:c.657del ENSP00000361042.3:p.Asn220ThrfsTer?
ENST00000437995.1:n.567del
ENST00000495952.5:n.647del
ENST00000615505.4:c.330del ENSP00000482067.1:p.Asn111ThrfsTer?
NM_001280787.1:c.330del NP_001267716.1:p.Asn111ThrfsTer?
NM_003172.3:c.657del NP_003163.1:p.Asn220ThrfsTer?
XM_011518942.1:c.330del XP_011517244.1:p.Asn111ThrfsTer?
NM_003172.4:c.657del MANE Select NP_003163.1:p.Asn220ThrfsTer?