Canonical Allele Identifier: CA2662505536
Gene: SF3B1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.197402109_197402110insG , CM000664.2:g.197402109_197402110insG GRCh38
NC_000002.11:g.198266833_198266834insG , CM000664.1:g.198266833_198266834insG GRCh37
NC_000002.10:g.197975078_197975079insG NCBI36
NG_032903.2:g.37938_37939insC , LRG_624:g.37938_37939insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000335508.11:c.2098_2099insC MANE Select ENSP00000335321.6:p.Lys700ThrfsTer15
ENST00000470268.2:n.3982_3983insC
ENST00000652026.1:c.*3165_*3166insC ENSP00000498652.1:n.*3165_*3166insC
ENST00000652738.1:c.*2357_*2358insC ENSP00000499119.1:n.*2357_*2358insC
ENST00000335508.10:c.2098_2099insC ENSP00000335321.5:p.Lys700ThrfsTer15
ENST00000462613.1:n.53_54insC
NM_012433.2:c.2098_2099insC NP_036565.2:p.Lys700ThrfsTer15
NM_012433.3:c.2098_2099insC , LRG_624t2:c.2098_2099insC NP_036565.2:p.Lys700ThrfsTer15
XM_011510867.1:c.1660_1661insC XP_011509169.1:p.Lys554ThrfsTer15
XM_011510868.1:c.1660_1661insC XP_011509170.1:p.Lys554ThrfsTer15
XR_241300.2:n.2190_2191insC
XR_001738680.2:n.2143_2144insC
NM_012433.4:c.2098_2099insC MANE Select NP_036565.2:p.Lys700ThrfsTer15
Search 100 bp 5'
Search 100 bp 3'