Canonical Allele Identifier: CA16041777
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 370723
ClinVar RCV Id: RCV000409280
dbSNP Id: rs1057516719

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.90794169del , CM000677.2:g.90794169del GRCh38
NC_000015.9:g.91337399del , CM000677.1:g.91337399del GRCh37
NC_000015.8:g.89138403del NCBI36
NG_007272.1:g.81798del , LRG_20:g.81798del

Transcript Alleles

HGVS Amino-acid change
ENST00000355112.8:c.3022del MANE Select ENSP00000347232.3:p.Glu1008LysfsTer26
ENST00000560559.2:n.1595del
ENST00000648453.1:c.3022del ENSP00000497646.1:p.Glu1008LysfsTer26
ENST00000680772.1:c.3022del ENSP00000506117.1:p.Glu1008LysfsTer26
ENST00000681142.1:c.3022del ENSP00000506682.1:p.Glu1008LysfsTer26
ENST00000355112.7:c.3022del ENSP00000347232.3:p.Glu1008LysfsTer26
ENST00000558825.5:n.369del
ENST00000559724.5:c.*1946del ENSP00000453359.1:n.*1946del
ENST00000560136.5:n.1048del
ENST00000560509.5:c.3022del ENSP00000454158.1:p.Glu1008LysfsTer26
ENST00000560559.1:n.559del
NM_000057.3:c.3022del NP_000048.1:p.Glu1008LysfsTer26
NM_001287246.1:c.3022del NP_001274175.1:p.Glu1008LysfsTer26
NM_001287247.1:c.3022del NP_001274176.1:p.Glu1008LysfsTer26
NM_001287248.1:c.1897del NP_001274177.1:p.Glu633LysfsTer26
XM_006720632.2:c.1060del XP_006720695.1:p.Glu354LysfsTer26
XM_011521881.1:c.1708del XP_011520183.1:p.Glu570LysfsTer26
XM_011521881.2:c.1708del XP_011520183.1:p.Glu570LysfsTer26
NM_000057.4:c.3022del MANE Select NP_000048.1:p.Glu1008LysfsTer26
NM_001287246.2:c.3022del NP_001274175.1:p.Glu1008LysfsTer26
NM_001287247.2:c.3022del NP_001274176.1:p.Glu1008LysfsTer26
NM_001287248.2:c.1897del NP_001274177.1:p.Glu633LysfsTer26