Canonical Allele Identifier: CA913190175
Gene: SURF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 520391
ClinVar RCV Id: RCV000754104
dbSNP Id: rs1564349176
gnomAD v4: 9-133353797-GTT-G
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133353798_133353799del , CM000671.2:g.133353798_133353799del GRCh38
NC_000009.10:g.135210474_135210475del NCBI36
NG_008477.1:g.7708_7709del

Transcript Alleles

HGVS Amino-acid change
ENST00000371974.8:c.465_466del MANE Select ENSP00000361042.3:p.Thr156SerfsTer23
ENST00000371974.7:c.465_466del ENSP00000361042.3:p.Thr156SerfsTer23
ENST00000437995.1:n.411_412del
ENST00000495952.5:n.455_456del
ENST00000615505.4:c.138_139del ENSP00000482067.1:p.Thr47SerfsTer23
NM_001280787.1:c.138_139del NP_001267716.1:p.Thr47SerfsTer23
NM_003172.3:c.465_466del NP_003163.1:p.Thr156SerfsTer23
XM_011518942.1:c.138_139del XP_011517244.1:p.Thr47SerfsTer23
NM_003172.4:c.465_466del MANE Select NP_003163.1:p.Thr156SerfsTer23
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