Canonical Allele Identifier: CA2697549391

Gene: BLM

Linked Data

• ClinVar Variation Id: 2749265
• ClinVar RCV Id: RCV003504727

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90794173_90794188dup , CM000677.2:g.90794173_90794188dup	GRCh38
NC_000015.9:g.91337403_91337418dup , CM000677.1:g.91337403_91337418dup	GRCh37
NC_000015.8:g.89138407_89138422dup	NCBI36
NG_007272.1:g.81802_81817dup , LRG_20:g.81802_81817dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000355112.8:c.3026_3041dup MANE Select	ENSP00000347232.3:p.His1014GlnfsTer14
ENST00000560559.2:n.1599_1614dup
ENST00000648453.1:c.3026_3041dup	ENSP00000497646.1:p.His1014GlnfsTer14
ENST00000680772.1:c.3026_3041dup	ENSP00000506117.1:p.His1014GlnfsTer14
ENST00000681142.1:c.3026_3041dup	ENSP00000506682.1:p.His1014GlnfsTer14
ENST00000355112.7:c.3026_3041dup	ENSP00000347232.3:p.His1014GlnfsTer14
ENST00000558825.5:n.373_388dup
ENST00000559724.5:c.*1950_*1965dup	ENSP00000453359.1:n.*1950_*1965dup
ENST00000560136.5:n.1052_1067dup
ENST00000560509.5:c.3026_3041dup	ENSP00000454158.1:p.His1014GlnfsTer14
ENST00000560559.1:n.563_578dup
NM_000057.3:c.3026_3041dup	NP_000048.1:p.His1014GlnfsTer14
NM_001287246.1:c.3026_3041dup	NP_001274175.1:p.His1014GlnfsTer14
NM_001287247.1:c.3026_3041dup	NP_001274176.1:p.His1014GlnfsTer14
NM_001287248.1:c.1901_1916dup	NP_001274177.1:p.His639GlnfsTer14
XM_006720632.2:c.1064_1079dup	XP_006720695.1:p.His360GlnfsTer14
XM_011521881.1:c.1712_1727dup	XP_011520183.1:p.His576GlnfsTer14
XM_011521881.2:c.1712_1727dup	XP_011520183.1:p.His576GlnfsTer14
NM_000057.4:c.3026_3041dup MANE Select	NP_000048.1:p.His1014GlnfsTer14
NM_001287246.2:c.3026_3041dup	NP_001274175.1:p.His1014GlnfsTer14
NM_001287247.2:c.3026_3041dup	NP_001274176.1:p.His1014GlnfsTer14
NM_001287248.2:c.1901_1916dup	NP_001274177.1:p.His639GlnfsTer14