Canonical Allele Identifier: CA2580090571

Gene: BLM

Linked Data

• ClinVar Variation Id: 2015988
• ClinVar RCV Id: RCV002846630

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90766958_90766971del , CM000677.2:g.90766958_90766971del	GRCh38
NC_000015.9:g.91310188_91310201del , CM000677.1:g.91310188_91310201del	GRCh37
NC_000015.8:g.89111192_89111205del	NCBI36
NG_007272.1:g.54587_54600del , LRG_20:g.54587_54600del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.2242_2255del MANE Select	ENSP00000347232.3:p.Asn748ValfsTer22
ENST00000648453.1:c.2242_2255del	ENSP00000497646.1:p.Asn748ValfsTer22
ENST00000680772.1:c.2242_2255del	ENSP00000506117.1:p.Asn748ValfsTer22
ENST00000681142.1:c.2242_2255del	ENSP00000506682.1:p.Asn748ValfsTer22
ENST00000355112.7:c.2242_2255del	ENSP00000347232.3:p.Asn748ValfsTer22
ENST00000559426.5:n.419_432del
ENST00000559724.5:c.*1166_*1179del	ENSP00000453359.1:n.*1166_*1179del
ENST00000560136.5:n.268_281del
ENST00000560509.5:c.2242_2255del	ENSP00000454158.1:p.Asn748ValfsTer22
NM_000057.3:c.2242_2255del	NP_000048.1:p.Asn748ValfsTer22
NM_001287246.1:c.2242_2255del	NP_001274175.1:p.Asn748ValfsTer22
NM_001287247.1:c.2242_2255del	NP_001274176.1:p.Asn748ValfsTer22
NM_001287248.1:c.1117_1130del	NP_001274177.1:p.Asn373ValfsTer22
XM_006720632.2:c.280_293del	XP_006720695.1:p.Asn94ValfsTer22
XM_011521881.1:c.928_941del	XP_011520183.1:p.Asn310ValfsTer22
XM_011521882.1:c.2242_2255del	XP_011520184.1:p.Asn748ValfsTer22
XM_011521881.2:c.928_941del	XP_011520183.1:p.Asn310ValfsTer22
XM_011521882.3:c.2242_2255del	XP_011520184.1:p.Asn748ValfsTer22
NM_000057.4:c.2242_2255del MANE Select	NP_000048.1:p.Asn748ValfsTer22
NM_001287246.2:c.2242_2255del	NP_001274175.1:p.Asn748ValfsTer22
NM_001287247.2:c.2242_2255del	NP_001274176.1:p.Asn748ValfsTer22
NM_001287248.2:c.1117_1130del	NP_001274177.1:p.Asn373ValfsTer22