Canonical Allele Identifier: CA2695211588
Gene: SURF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133352506_133352523del , CM000671.2:g.133352506_133352523del GRCh38
NC_000009.10:g.135209182_135209199del NCBI36
NG_008477.1:g.8987_9004del

Transcript Alleles

HGVS Amino-acid change
ENST00000371974.8:c.677_694del MANE Select ENSP00000361042.3:p.His226_Asp231del
ENST00000371974.7:c.677_694del ENSP00000361042.3:p.His226_Asp231del
ENST00000437995.1:n.587_604del
ENST00000495952.5:n.667_684del
ENST00000615505.4:c.350_367del ENSP00000482067.1:p.His117_Asp122del
NM_001280787.1:c.350_367del NP_001267716.1:p.His117_Asp122del
NM_003172.3:c.677_694del NP_003163.1:p.His226_Asp231del
XM_011518942.1:c.350_367del XP_011517244.1:p.His117_Asp122del
NM_003172.4:c.677_694del MANE Select NP_003163.1:p.His226_Asp231del