Canonical Allele Identifier: CA16041773
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 371040
ClinVar RCV Id: RCV000410100
dbSNP Id: rs1057516956
MyVariant Identifiers: chr15:g.91304367_91304380del (hg19) chr15:g.90761137_90761150del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.90761137_90761150del , CM000677.2:g.90761137_90761150del GRCh38
NC_000015.9:g.91304367_91304380del , CM000677.1:g.91304367_91304380del GRCh37
NC_000015.8:g.89105371_89105384del NCBI36
NG_007272.1:g.48766_48779del , LRG_20:g.48766_48779del

Transcript Alleles

HGVS Amino-acid change
ENST00000355112.8:c.1764_1777del MANE Select ENSP00000347232.3:p.Lys588AsnfsTer2
ENST00000648453.1:c.1764_1777del ENSP00000497646.1:p.Lys588AsnfsTer2
ENST00000680772.1:c.1764_1777del ENSP00000506117.1:p.Lys588AsnfsTer2
ENST00000681142.1:c.1764_1777del ENSP00000506682.1:p.Lys588AsnfsTer2
ENST00000355112.7:c.1764_1777del ENSP00000347232.3:p.Lys588AsnfsTer2
ENST00000559724.5:c.*688_*701del ENSP00000453359.1:n.*688_*701del
ENST00000560509.5:c.1764_1777del ENSP00000454158.1:p.Lys588AsnfsTer2
NM_000057.3:c.1764_1777del NP_000048.1:p.Lys588AsnfsTer2
NM_001287246.1:c.1764_1777del NP_001274175.1:p.Lys588AsnfsTer2
NM_001287247.1:c.1764_1777del NP_001274176.1:p.Lys588AsnfsTer2
NM_001287248.1:c.639_652del NP_001274177.1:p.Lys213AsnfsTer2
XM_011521881.1:c.450_463del XP_011520183.1:p.Lys150AsnfsTer2
XM_011521882.1:c.1764_1777del XP_011520184.1:p.Lys588AsnfsTer2
XM_011521881.2:c.450_463del XP_011520183.1:p.Lys150AsnfsTer2
XM_011521882.3:c.1764_1777del XP_011520184.1:p.Lys588AsnfsTer2
NM_000057.4:c.1764_1777del MANE Select NP_000048.1:p.Lys588AsnfsTer2
NM_001287246.2:c.1764_1777del NP_001274175.1:p.Lys588AsnfsTer2
NM_001287247.2:c.1764_1777del NP_001274176.1:p.Lys588AsnfsTer2
NM_001287248.2:c.639_652del NP_001274177.1:p.Lys213AsnfsTer2
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