Canonical Allele Identifier: CA320417
Gene: SURF1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133352079_133352084dup , CM000671.2:g.133352079_133352084dup GRCh38
NC_000009.10:g.135208755_135208760dup NCBI36
NG_008477.1:g.9426_9431dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000371974.8:c.813_818dup MANE Select ENSP00000361042.3:p.Leu272_Gln273insHisLeu
ENST00000371974.7:c.813_818dup ENSP00000361042.3:p.Leu272_Gln273insHisLeu
ENST00000437995.1:n.723_728dup
ENST00000495952.5:n.803_808dup
ENST00000615505.4:c.486_491dup ENSP00000482067.1:p.Leu163_Gln164insHisLeu
NM_001280787.1:c.486_491dup NP_001267716.1:p.Leu163_Gln164insHisLeu
NM_003172.3:c.813_818dup NP_003163.1:p.Leu272_Gln273insHisLeu
XM_011518942.1:c.486_491dup XP_011517244.1:p.Leu163_Gln164insHisLeu
NM_003172.4:c.813_818dup MANE Select NP_003163.1:p.Leu272_Gln273insHisLeu
Search 100 bp 5'
Search 100 bp 3'