Canonical Allele Identifier: CA2786166205
Gene: SURF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133353896dup , CM000671.2:g.133353896dup GRCh38
NC_000009.10:g.135210572dup NCBI36
NG_008477.1:g.7615dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000371974.8:c.372dup MANE Select ENSP00000361042.3:p.Cys125ValfsTer3
ENST00000371974.7:c.372dup ENSP00000361042.3:p.Cys125ValfsTer3
ENST00000437995.1:n.318dup
ENST00000495952.5:n.362dup
ENST00000615505.4:c.45dup ENSP00000482067.1:p.Cys16ValfsTer3
NM_001280787.1:c.45dup NP_001267716.1:p.Cys16ValfsTer3
NM_003172.3:c.372dup NP_003163.1:p.Cys125ValfsTer3
XM_011518942.1:c.45dup XP_011517244.1:p.Cys16ValfsTer3
NM_003172.4:c.372dup MANE Select NP_003163.1:p.Cys125ValfsTer3