Canonical Allele Identifier: CA200832546
Gene: SURF1 HGNC NCBI

Linked Data

dbSNP Id: rs781784237 rs2130010170
gnomAD v3: 9-133352777-G-GA
gnomAD v4: 9-133352777-G-GA
MyVariant Identifiers: chr9:g.133352778_133352779insA (hg38) chr9:g.133352777_133352778insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133352780dup , CM000671.2:g.133352780dup GRCh38
NC_000009.10:g.135209456dup NCBI36
NG_008477.1:g.8729dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000371974.8:c.516-12dup MANE Select ENSP00000361042.3:n.516-12dup
ENST00000371974.7:c.516-12dup ENSP00000361042.3:n.516-12dup
ENST00000437995.1:n.462-48dup
ENST00000495952.5:n.506-12dup
ENST00000615505.4:c.189-12dup ENSP00000482067.1:n.189-12dup
NM_001280787.1:c.189-12dup NP_001267716.1:n.189-12dup
NM_003172.3:c.516-12dup NP_003163.1:n.516-12dup
XM_011518942.1:c.189-12dup XP_011517244.1:n.189-12dup
NM_003172.4:c.516-12dup MANE Select NP_003163.1:n.516-12dup
Search 100 bp 5'
Search 100 bp 3'