Canonical Allele Identifier: CA2692339062
Gene: SURF1 HGNC NCBI

Linked Data

gnomAD v4: 9-133352508-CGAT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133352509_133352511del , CM000671.2:g.133352509_133352511del GRCh38
NC_000009.10:g.135209185_135209187del NCBI36
NG_008477.1:g.8996_8998del

Transcript Alleles

HGVS Amino-acid Change
ENST00000371974.8:c.686_688del MANE Select ENSP00000361042.3:p.Tyr229Ter
ENST00000371974.7:c.686_688del ENSP00000361042.3:p.Tyr229Ter
ENST00000437995.1:n.596_598del
ENST00000495952.5:n.676_678del
ENST00000615505.4:c.359_361del ENSP00000482067.1:p.Tyr120Ter
NM_001280787.1:c.359_361del NP_001267716.1:p.Tyr120Ter
NM_003172.3:c.686_688del NP_003163.1:p.Tyr229Ter
XM_011518942.1:c.359_361del XP_011517244.1:p.Tyr120Ter
NM_003172.4:c.686_688del MANE Select NP_003163.1:p.Tyr229Ter
Search 100 bp 5'
Search 100 bp 3'