Canonical Allele Identifier: CA2195295824

Gene: BLM

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90790837_90790848delinsTATAATGAGTAA , CM000677.2:g.90790837_90790848delinsTATAATGAGTAA	GRCh38
NC_000015.9:g.91334067_91334078delinsTATAATGAGTAA , CM000677.1:g.91334067_91334078delinsTATAATGAGTAA	GRCh37
NC_000015.8:g.89135071_89135082delinsTATAATGAGTAA	NCBI36
NG_007272.1:g.78466_78477delinsTATAATGAGTAA , LRG_20:g.78466_78477delinsTATAATGAGTAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.3012_3019+4delinsTATAATGAGTAA
ENST00000560559.2:n.1585_1592+4delinsTATAATGAGTAA
ENST00000648453.1:c.3012_3019+4delinsTATAATGAGTAA
ENST00000680772.1:c.3012_3019+4delinsTATAATGAGTAA
ENST00000681142.1:c.3012_3019+4delinsTATAATGAGTAA
ENST00000355112.7:c.3012_3019+4delinsTATAATGAGTAA
ENST00000559724.5:c.*1936_*1943+4delinsTATAATGAGTAA
ENST00000560136.5:n.1038_1045+4delinsTATAATGAGTAA
ENST00000560509.5:c.3012_3019+4delinsTATAATGAGTAA
ENST00000560559.1:n.549_556+4delinsTATAATGAGTAA
NM_000057.3:c.3012_3019+4delinsTATAATGAGTAA
NM_001287246.1:c.3012_3019+4delinsTATAATGAGTAA
NM_001287247.1:c.3012_3019+4delinsTATAATGAGTAA
NM_001287248.1:c.1887_1894+4delinsTATAATGAGTAA
XM_006720632.2:c.1050_1057+4delinsTATAATGAGTAA
XM_011521881.1:c.1698_1705+4delinsTATAATGAGTAA
XM_011521881.2:c.1698_1705+4delinsTATAATGAGTAA
NM_000057.4:c.3012_3019+4delinsTATAATGAGTAA
NM_001287246.2:c.3012_3019+4delinsTATAATGAGTAA
NM_001287247.2:c.3012_3019+4delinsTATAATGAGTAA
NM_001287248.2:c.1887_1894+4delinsTATAATGAGTAA