Canonical Allele Identifier: CA1882634027
Gene: SURF1 HGNC NCBI

Linked Data

dbSNP Id: rs1836450800
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133352456_133352476del , CM000671.2:g.133352456_133352476del GRCh38
NC_000009.10:g.135209132_135209152del NCBI36
NG_008477.1:g.9033_9053del

Transcript Alleles

HGVS Amino-acid Change
ENST00000371974.8:c.723_743del MANE Select ENSP00000361042.3:p.Glu242_Ala248del
ENST00000371974.7:c.723_743del ENSP00000361042.3:p.Glu242_Ala248del
ENST00000437995.1:n.633_653del
ENST00000495952.5:n.713_733del
ENST00000615505.4:c.396_416del ENSP00000482067.1:p.Glu133_Ala139del
NM_001280787.1:c.396_416del NP_001267716.1:p.Glu133_Ala139del
NM_003172.3:c.723_743del NP_003163.1:p.Glu242_Ala248del
XM_011518942.1:c.396_416del XP_011517244.1:p.Glu133_Ala139del
NM_003172.4:c.723_743del MANE Select NP_003163.1:p.Glu242_Ala248del
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