Canonical Allele Identifier: CA16041775
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 370390
ClinVar RCV Id: RCV000409206
dbSNP Id: rs1057516452
MyVariant Identifiers: chr15:g.91328208_91328214del (hg19) chr15:g.90784978_90784984del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.90784978_90784984del , CM000677.2:g.90784978_90784984del GRCh38
NC_000015.9:g.91328208_91328214del , CM000677.1:g.91328208_91328214del GRCh37
NC_000015.8:g.89129212_89129218del NCBI36
NG_007272.1:g.72607_72613del , LRG_20:g.72607_72613del

Transcript Alleles

HGVS Amino-acid change
ENST00000355112.8:c.2720_2726del MANE Select ENSP00000347232.3:p.Thr907ArgfsTer?
ENST00000648453.1:c.2720_2726del ENSP00000497646.1:p.Thr907ArgfsTer?
ENST00000680772.1:c.2720_2726del ENSP00000506117.1:p.Thr907ArgfsTer?
ENST00000681142.1:c.2720_2726del ENSP00000506682.1:p.Thr907ArgfsTer?
ENST00000355112.7:c.2720_2726del ENSP00000347232.3:p.Thr907ArgfsTer?
ENST00000559724.5:c.*1644_*1650del ENSP00000453359.1:n.*1644_*1650del
ENST00000560136.5:n.746_752del
ENST00000560509.5:c.2720_2726del ENSP00000454158.1:p.Thr907ArgfsTer?
NM_000057.3:c.2720_2726del NP_000048.1:p.Thr907ArgfsTer?
NM_001287246.1:c.2720_2726del NP_001274175.1:p.Thr907ArgfsTer?
NM_001287247.1:c.2720_2726del NP_001274176.1:p.Thr907ArgfsTer?
NM_001287248.1:c.1595_1601del NP_001274177.1:p.Thr532ArgfsTer?
XM_006720632.2:c.758_764del XP_006720695.1:p.Thr253ArgfsTer?
XM_011521881.1:c.1406_1412del XP_011520183.1:p.Thr469ArgfsTer?
XM_011521881.2:c.1406_1412del XP_011520183.1:p.Thr469ArgfsTer?
NM_000057.4:c.2720_2726del MANE Select NP_000048.1:p.Thr907ArgfsTer?
NM_001287246.2:c.2720_2726del NP_001274175.1:p.Thr907ArgfsTer?
NM_001287247.2:c.2720_2726del NP_001274176.1:p.Thr907ArgfsTer?
NM_001287248.2:c.1595_1601del NP_001274177.1:p.Thr532ArgfsTer?
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