Canonical Allele Identifier: CA16041774
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 371640
ClinVar RCV Id: RCV000411246
dbSNP Id: rs1057517431
MyVariant Identifiers: chr15:g.91304398del (hg19) chr15:g.90761168del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.90761168del , CM000677.2:g.90761168del GRCh38
NC_000015.9:g.91304398del , CM000677.1:g.91304398del GRCh37
NC_000015.8:g.89105402del NCBI36
NG_007272.1:g.48797del , LRG_20:g.48797del

Transcript Alleles

HGVS Amino-acid change
ENST00000355112.8:c.1795del MANE Select ENSP00000347232.3:p.Arg599AspfsTer19
ENST00000648453.1:c.1795del ENSP00000497646.1:p.Arg599AspfsTer19
ENST00000680772.1:c.1795del ENSP00000506117.1:p.Arg599AspfsTer19
ENST00000681142.1:c.1795del ENSP00000506682.1:p.Arg599AspfsTer19
ENST00000355112.7:c.1795del ENSP00000347232.3:p.Arg599AspfsTer19
ENST00000559724.5:c.*719del ENSP00000453359.1:n.*719del
ENST00000560509.5:c.1795del ENSP00000454158.1:p.Arg599AspfsTer19
NM_000057.3:c.1795del NP_000048.1:p.Arg599AspfsTer19
NM_001287246.1:c.1795del NP_001274175.1:p.Arg599AspfsTer19
NM_001287247.1:c.1795del NP_001274176.1:p.Arg599AspfsTer19
NM_001287248.1:c.670del NP_001274177.1:p.Arg224AspfsTer19
XM_011521881.1:c.481del XP_011520183.1:p.Arg161AspfsTer19
XM_011521882.1:c.1795del XP_011520184.1:p.Arg599AspfsTer19
XM_011521881.2:c.481del XP_011520183.1:p.Arg161AspfsTer19
XM_011521882.3:c.1795del XP_011520184.1:p.Arg599AspfsTer19
NM_000057.4:c.1795del MANE Select NP_000048.1:p.Arg599AspfsTer19
NM_001287246.2:c.1795del NP_001274175.1:p.Arg599AspfsTer19
NM_001287247.2:c.1795del NP_001274176.1:p.Arg599AspfsTer19
NM_001287248.2:c.670del NP_001274177.1:p.Arg224AspfsTer19
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