Canonical Allele Identifier: CA212943
Gene: SURF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 12770
ClinVar RCV Id: RCV000013608 RCV000197896 RCV000331329 RCV000500935 RCV000624533 RCV000626844 RCV002251902 RCV003914836
dbSNP Id: rs782316919 rs2130003140
gnomAD v3: 9-133351969-CAG-C
gnomAD v4: 9-133351969-CAG-C
COSMIC: COSM5512629
MyVariant Identifiers: chr9:g.133351971_133351972del (hg38) chr9:g.133351970_133351971del (hg38)
PubMed: PMID:9837813 PMID:11317352 PMID:16225813 PMID:16326995 PMID:18583168 PMID:19780766 PMID:22488715 PMID:23829769 PMID:26443249 PMID:26762927
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133351974_133351975del , CM000671.2:g.133351974_133351975del GRCh38
NC_000009.10:g.135208650_135208651del NCBI36
NG_008477.1:g.9536_9537del

Transcript Alleles

HGVS Amino-acid change
ENST00000371974.8:c.845_846del MANE Select ENSP00000361042.3:p.Ser282CysfsTer9
ENST00000371974.7:c.845_846del ENSP00000361042.3:p.Ser282CysfsTer9
ENST00000437995.1:n.755_756del
ENST00000495952.5:n.835_836del
ENST00000615505.4:c.518_519del ENSP00000482067.1:p.Ser173CysfsTer9
NM_001280787.1:c.518_519del NP_001267716.1:p.Ser173CysfsTer9
NM_003172.3:c.845_846del NP_003163.1:p.Ser282CysfsTer9
XM_011518942.1:c.518_519del XP_011517244.1:p.Ser173CysfsTer9
NM_003172.4:c.845_846del MANE Select NP_003163.1:p.Ser282CysfsTer9
Search 100 bp 5'
Search 100 bp 3'