Canonical Allele Identifier: CA200832402
Gene: SURF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2147072
ClinVar RCV Id: RCV003060711
dbSNP Id: rs945343783
gnomAD v3: 9-133352586-A-ATGAGG
gnomAD v4: 9-133352586-A-ATGAGG
MyVariant Identifiers: chr9:g.133352586_133352587insTGAGG (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133352588_133352592dup , CM000671.2:g.133352588_133352592dup GRCh38
NC_000009.10:g.135209264_135209268dup NCBI36
NG_008477.1:g.8916_8920dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000371974.8:c.606_610dup MANE Select ENSP00000361042.3:p.Ile204ThrfsTer6
ENST00000371974.7:c.606_610dup ENSP00000361042.3:p.Ile204ThrfsTer6
ENST00000437995.1:n.516_520dup
ENST00000495952.5:n.596_600dup
ENST00000615505.4:c.279_283dup ENSP00000482067.1:p.Ile95ThrfsTer6
NM_001280787.1:c.279_283dup NP_001267716.1:p.Ile95ThrfsTer6
NM_003172.3:c.606_610dup NP_003163.1:p.Ile204ThrfsTer6
XM_011518942.1:c.279_283dup XP_011517244.1:p.Ile95ThrfsTer6
NM_003172.4:c.606_610dup MANE Select NP_003163.1:p.Ile204ThrfsTer6
Search 100 bp 5'
Search 100 bp 3'