Canonical Allele Identifier: CA200832338
Gene: SURF1 HGNC NCBI

Linked Data

dbSNP Id: rs2130007127
MyVariant Identifiers: chr9:g.133352474_133352475insG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133352475dup , CM000671.2:g.133352475dup GRCh38
NC_000009.10:g.135209151dup NCBI36
NG_008477.1:g.9032dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000371974.8:c.722dup MANE Select ENSP00000361042.3:p.Glu242ArgfsTer6
ENST00000371974.7:c.722dup ENSP00000361042.3:p.Glu242ArgfsTer6
ENST00000437995.1:n.632dup
ENST00000495952.5:n.712dup
ENST00000615505.4:c.395dup ENSP00000482067.1:p.Glu133ArgfsTer6
NM_001280787.1:c.395dup NP_001267716.1:p.Glu133ArgfsTer6
NM_003172.3:c.722dup NP_003163.1:p.Glu242ArgfsTer6
XM_011518942.1:c.395dup XP_011517244.1:p.Glu133ArgfsTer6
NM_003172.4:c.722dup MANE Select NP_003163.1:p.Glu242ArgfsTer6
Search 100 bp 5'
Search 100 bp 3'