Canonical Allele Identifier: CA215063
Gene: SURF1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133352096_133352097del , CM000671.2:g.133352096_133352097del GRCh38
NC_000009.10:g.135208772_135208773del NCBI36
NG_008477.1:g.9412_9413del

Transcript Alleles

HGVS Amino-acid Change
ENST00000371974.8:c.799_800del MANE Select ENSP00000361042.3:p.Leu267GlufsTer24
ENST00000371974.7:c.799_800del ENSP00000361042.3:p.Leu267GlufsTer24
ENST00000437995.1:n.709_710del
ENST00000495952.5:n.789_790del
ENST00000615505.4:c.472_473del ENSP00000482067.1:p.Leu158GlufsTer24
NM_001280787.1:c.472_473del NP_001267716.1:p.Leu158GlufsTer24
NM_003172.3:c.799_800del NP_003163.1:p.Leu267GlufsTer24
XM_011518942.1:c.472_473del XP_011517244.1:p.Leu158GlufsTer24
NM_003172.4:c.799_800del MANE Select NP_003163.1:p.Leu267GlufsTer24
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