Canonical Allele Identifier: CA2695211590

Gene: SURF1

Linked Data

• ClinVar Variation Id: 3064361
• ClinVar RCV Id: RCV003988901

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133352541_133352542del , CM000671.2:g.133352541_133352542del	GRCh38
NC_000009.10:g.135209217_135209218del	NCBI36
NG_008477.1:g.8967_8968del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371974.8:c.657_658del MANE Select	ENSP00000361042.3:p.Asn220GlnfsTer27
ENST00000371974.7:c.657_658del	ENSP00000361042.3:p.Asn220GlnfsTer27
ENST00000437995.1:n.567_568del
ENST00000495952.5:n.647_648del
ENST00000615505.4:c.330_331del	ENSP00000482067.1:p.Asn111GlnfsTer27
NM_001280787.1:c.330_331del	NP_001267716.1:p.Asn111GlnfsTer27
NM_003172.3:c.657_658del	NP_003163.1:p.Asn220GlnfsTer27
XM_011518942.1:c.330_331del	XP_011517244.1:p.Asn111GlnfsTer27
NM_003172.4:c.657_658del MANE Select	NP_003163.1:p.Asn220GlnfsTer27