Canonical Allele Identifier: CA16041780
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 370511
ClinVar RCV Id: RCV000412256
dbSNP Id: rs1057516547
MyVariant Identifiers: chr15:g.91347476del (hg19) chr15:g.90804246del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.90804246del , CM000677.2:g.90804246del GRCh38
NC_000015.9:g.91347476del , CM000677.1:g.91347476del GRCh37
NC_000015.8:g.89148480del NCBI36
NG_007272.1:g.91875del , LRG_20:g.91875del

Transcript Alleles

HGVS Amino-acid change
ENST00000355112.8:c.3638del MANE Select ENSP00000347232.3:p.Glu1213GlyfsTer?
ENST00000560559.2:n.2211del
ENST00000648453.1:c.3638del ENSP00000497646.1:p.Glu1213GlyfsTer?
ENST00000680772.1:c.3638del ENSP00000506117.1:p.Glu1213GlyfsTer?
ENST00000681142.1:c.3638del ENSP00000506682.1:p.Glu1213GlyfsTer?
ENST00000355112.7:c.3638del ENSP00000347232.3:p.Glu1213GlyfsTer?
ENST00000558825.5:n.985del
ENST00000559724.5:c.*2562del ENSP00000453359.1:n.*2562del
ENST00000560136.5:n.1664del
ENST00000560509.5:c.3359-4891del ENSP00000454158.1:n.3359-4891del
NM_000057.3:c.3638del NP_000048.1:p.Glu1213GlyfsTer?
NM_001287246.1:c.3638del NP_001274175.1:p.Glu1213GlyfsTer?
NM_001287247.1:c.3359-4891del NP_001274176.1:n.3359-4891del
NM_001287248.1:c.2513del NP_001274177.1:p.Glu838GlyfsTer?
XM_006720632.2:c.1676del XP_006720695.1:p.Glu559GlyfsTer?
XM_011521881.1:c.2324del XP_011520183.1:p.Glu775GlyfsTer?
XM_011521881.2:c.2324del XP_011520183.1:p.Glu775GlyfsTer?
NM_000057.4:c.3638del MANE Select NP_000048.1:p.Glu1213GlyfsTer?
NM_001287246.2:c.3638del NP_001274175.1:p.Glu1213GlyfsTer?
NM_001287247.2:c.3359-4891del NP_001274176.1:n.3359-4891del
NM_001287248.2:c.2513del NP_001274177.1:p.Glu838GlyfsTer?
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