Canonical Allele Identifier: CA2695211602
Gene: SURF1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133353796_133353797del , CM000671.2:g.133353796_133353797del GRCh38
NC_000009.10:g.135210472_135210473del NCBI36
NG_008477.1:g.7711_7712del

Transcript Alleles

HGVS Amino-acid change
ENST00000371974.8:c.468_469del MANE Select ENSP00000361042.3:p.Gln157GlufsTer22
ENST00000371974.7:c.468_469del ENSP00000361042.3:p.Gln157GlufsTer22
ENST00000437995.1:n.414_415del
ENST00000495952.5:n.458_459del
ENST00000615505.4:c.141_142del ENSP00000482067.1:p.Gln48GlufsTer22
NM_001280787.1:c.141_142del NP_001267716.1:p.Gln48GlufsTer22
NM_003172.3:c.468_469del NP_003163.1:p.Gln157GlufsTer22
XM_011518942.1:c.141_142del XP_011517244.1:p.Gln48GlufsTer22
NM_003172.4:c.468_469del MANE Select NP_003163.1:p.Gln157GlufsTer22
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