Canonical Allele Identifier: CA2695211579

Gene: SURF1

Linked Data

• ClinVar Variation Id: 2726031
• ClinVar RCV Id: RCV003511208 ; RCV003886629

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133351948del , CM000671.2:g.133351948del	GRCh38
NC_000009.10:g.135208624del	NCBI36
NG_008477.1:g.9561del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371974.8:c.870del MANE Select	ENSP00000361042.3:p.Phe290LeufsTer?
ENST00000371974.7:c.870del	ENSP00000361042.3:p.Phe290LeufsTer?
ENST00000437995.1:n.780del
ENST00000495952.5:n.860del
ENST00000615505.4:c.543del	ENSP00000482067.1:p.Phe181LeufsTer?
NM_001280787.1:c.543del	NP_001267716.1:p.Phe181LeufsTer?
NM_003172.3:c.870del	NP_003163.1:p.Phe290LeufsTer?
XM_011518942.1:c.543del	XP_011517244.1:p.Phe181LeufsTer?
NM_003172.4:c.870del MANE Select	NP_003163.1:p.Phe290LeufsTer?