Canonical Allele Identifier: CA344653
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 42177
ClinVar RCV Id: RCV000035004 RCV000598767
dbSNP Id: rs367543012
gnomAD v2: 15-91312667-G-GT
gnomAD v4: 15-90769437-G-GT
MyVariant Identifiers: chr15:g.91312668dup (hg19) chr15:g.91312668dupT (hg19) chr15:g.91312667_91312668insT (hg19) chr15:g.90769438dupT (hg38) chr15:g.90769437_90769438insT (hg38)
PubMed: PMID:9837821 PMID:17407155 PMID:20301572
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.90769438dup , CM000677.2:g.90769438dup GRCh38
NC_000015.9:g.91312668dup , CM000677.1:g.91312668dup GRCh37
NC_000015.8:g.89113672dup NCBI36
NG_007272.1:g.57067dup , LRG_20:g.57067dup

Transcript Alleles

HGVS Amino-acid change
ENST00000355112.8:c.2407dup MANE Select ENSP00000347232.3:p.Trp803LeufsTer4
ENST00000648453.1:c.2407dup ENSP00000497646.1:p.Trp803LeufsTer4
ENST00000680772.1:c.2407dup ENSP00000506117.1:p.Trp803LeufsTer4
ENST00000681142.1:c.2407dup ENSP00000506682.1:p.Trp803LeufsTer4
ENST00000355112.7:c.2407dup ENSP00000347232.3:p.Trp803LeufsTer4
ENST00000559724.5:c.*1331dup ENSP00000453359.1:n.*1331dup
ENST00000560136.5:n.433dup
ENST00000560509.5:c.2407dup ENSP00000454158.1:p.Trp803LeufsTer4
NM_000057.3:c.2407dup NP_000048.1:p.Trp803LeufsTer4
NM_001287246.1:c.2407dup NP_001274175.1:p.Trp803LeufsTer4
NM_001287247.1:c.2407dup NP_001274176.1:p.Trp803LeufsTer4
NM_001287248.1:c.1282dup NP_001274177.1:p.Trp428LeufsTer4
XM_006720632.2:c.445dup XP_006720695.1:p.Trp149LeufsTer4
XM_011521881.1:c.1093dup XP_011520183.1:p.Trp365LeufsTer4
XM_011521882.1:c.2407dup XP_011520184.1:p.Trp803LeufsTer4
XM_011521881.2:c.1093dup XP_011520183.1:p.Trp365LeufsTer4
XM_011521882.3:c.2407dup XP_011520184.1:p.Trp803LeufsTer4
NM_000057.4:c.2407dup MANE Select NP_000048.1:p.Trp803LeufsTer4
NM_001287246.2:c.2407dup NP_001274175.1:p.Trp803LeufsTer4
NM_001287247.2:c.2407dup NP_001274176.1:p.Trp803LeufsTer4
NM_001287248.2:c.1282dup NP_001274177.1:p.Trp428LeufsTer4
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Search 100 bp 3'