Canonical Allele Identifier: CA1882633996
Gene: SURF1 HGNC NCBI

Linked Data

dbSNP Id: rs1836450055 rs2130006951
gnomAD v4: 9-133352445-CG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133352447del , CM000671.2:g.133352447del GRCh38
NC_000009.10:g.135209123del NCBI36
NG_008477.1:g.9061del

Transcript Alleles

HGVS Amino-acid Change
ENST00000371974.8:c.751del MANE Select ENSP00000361042.3:p.Gln251ArgfsTer17
ENST00000371974.7:c.751del ENSP00000361042.3:p.Gln251ArgfsTer17
ENST00000437995.1:n.661del
ENST00000495952.5:n.741del
ENST00000615505.4:c.424del ENSP00000482067.1:p.Gln142ArgfsTer17
NM_001280787.1:c.424del NP_001267716.1:p.Gln142ArgfsTer17
NM_003172.3:c.751del NP_003163.1:p.Gln251ArgfsTer17
XM_011518942.1:c.424del XP_011517244.1:p.Gln142ArgfsTer17
NM_003172.4:c.751del MANE Select NP_003163.1:p.Gln251ArgfsTer17
Search 100 bp 5'
Search 100 bp 3'