Canonical Allele Identifier: CA2786166153
Gene: SURF1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133352607_133352608insCCCAAACACACCCAACACA , CM000671.2:g.133352607_133352608insCCCAAACACACCCAACACA GRCh38
NC_000009.10:g.135209283_135209284insCCCAAACACACCCAACACA NCBI36
NG_008477.1:g.8900_8901insGTGTTGGGTGTGTTTGGGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000371974.8:c.590_591insGTGTTGGGTGTGTTTGGGT MANE Select ENSP00000361042.3:p.Ile197MetfsTer8
ENST00000371974.7:c.590_591insGTGTTGGGTGTGTTTGGGT ENSP00000361042.3:p.Ile197MetfsTer8
ENST00000437995.1:n.500_501insGTGTTGGGTGTGTTTGGGT
ENST00000495952.5:n.580_581insGTGTTGGGTGTGTTTGGGT
ENST00000615505.4:c.263_264insGTGTTGGGTGTGTTTGGGT ENSP00000482067.1:p.Ile88MetfsTer8
NM_001280787.1:c.263_264insGTGTTGGGTGTGTTTGGGT NP_001267716.1:p.Ile88MetfsTer8
NM_003172.3:c.590_591insGTGTTGGGTGTGTTTGGGT NP_003163.1:p.Ile197MetfsTer8
XM_011518942.1:c.263_264insGTGTTGGGTGTGTTTGGGT XP_011517244.1:p.Ile88MetfsTer8
NM_003172.4:c.590_591insGTGTTGGGTGTGTTTGGGT MANE Select NP_003163.1:p.Ile197MetfsTer8
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