Canonical Allele Identifier: CA16041770
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 370265
ClinVar RCV Id: RCV000411275
dbSNP Id: rs1057516361
MyVariant Identifiers: chr15:g.91304323_91304338del (hg19) chr15:g.90761093_90761108del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.90761093_90761108del , CM000677.2:g.90761093_90761108del GRCh38
NC_000015.9:g.91304323_91304338del , CM000677.1:g.91304323_91304338del GRCh37
NC_000015.8:g.89105327_89105342del NCBI36
NG_007272.1:g.48722_48737del , LRG_20:g.48722_48737del

Transcript Alleles

HGVS Amino-acid change
ENST00000355112.8:c.1720_1735del MANE Select ENSP00000347232.3:p.Ala575ProfsTer?
ENST00000648453.1:c.1720_1735del ENSP00000497646.1:p.Ala575ProfsTer?
ENST00000680772.1:c.1720_1735del ENSP00000506117.1:p.Ala575ProfsTer?
ENST00000681142.1:c.1720_1735del ENSP00000506682.1:p.Ala575ProfsTer?
ENST00000355112.7:c.1720_1735del ENSP00000347232.3:p.Ala575ProfsTer?
ENST00000559724.5:c.*644_*659del ENSP00000453359.1:n.*644_*659del
ENST00000560509.5:c.1720_1735del ENSP00000454158.1:p.Ala575ProfsTer?
NM_000057.3:c.1720_1735del NP_000048.1:p.Ala575ProfsTer?
NM_001287246.1:c.1720_1735del NP_001274175.1:p.Ala575ProfsTer?
NM_001287247.1:c.1720_1735del NP_001274176.1:p.Ala575ProfsTer?
NM_001287248.1:c.595_610del NP_001274177.1:p.Ala200ProfsTer?
XM_011521881.1:c.406_421del XP_011520183.1:p.Ala137ProfsTer?
XM_011521882.1:c.1720_1735del XP_011520184.1:p.Ala575ProfsTer?
XM_011521881.2:c.406_421del XP_011520183.1:p.Ala137ProfsTer?
XM_011521882.3:c.1720_1735del XP_011520184.1:p.Ala575ProfsTer?
NM_000057.4:c.1720_1735del MANE Select NP_000048.1:p.Ala575ProfsTer?
NM_001287246.2:c.1720_1735del NP_001274175.1:p.Ala575ProfsTer?
NM_001287247.2:c.1720_1735del NP_001274176.1:p.Ala575ProfsTer?
NM_001287248.2:c.595_610del NP_001274177.1:p.Ala200ProfsTer?
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