Canonical Allele Identifier: CA16041783
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 370136
dbSNP Id: rs1057516261

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.90811330_90811334del , CM000677.2:g.90811330_90811334del GRCh38
NC_000015.9:g.91354560_91354564del , CM000677.1:g.91354560_91354564del GRCh37
NC_000015.8:g.89155564_89155568del NCBI36
NG_007272.1:g.98959_98963del , LRG_20:g.98959_98963del

Transcript Alleles

HGVS Amino-acid change
ENST00000355112.8:c.4000_4004del MANE Select ENSP00000347232.3:p.Arg1334GlufsTer11
ENST00000560559.2:n.2573_2577del
ENST00000648453.1:c.4000_4004del ENSP00000497646.1:p.Arg1334GlufsTer11
ENST00000680772.1:c.4000_4004del ENSP00000506117.1:p.Arg1334GlufsTer11
ENST00000681142.1:c.4000_4004del ENSP00000506682.1:p.Arg1334GlufsTer11
ENST00000355112.7:c.4000_4004del ENSP00000347232.3:p.Arg1334GlufsTer11
ENST00000558825.5:n.1347_1351del
ENST00000559724.5:c.*2924_*2928del ENSP00000453359.1:n.*2924_*2928del
ENST00000560509.5:c.3607_3611del ENSP00000454158.1:p.Arg1203GlufsTer11
ENST00000560821.1:n.420_424del
NM_000057.3:c.4000_4004del NP_000048.1:p.Arg1334GlufsTer11
NM_001287246.1:c.4000_4004del NP_001274175.1:p.Arg1334GlufsTer11
NM_001287247.1:c.3607_3611del NP_001274176.1:p.Arg1203GlufsTer11
NM_001287248.1:c.2875_2879del NP_001274177.1:p.Arg959GlufsTer11
XM_006720632.2:c.2038_2042del XP_006720695.1:p.Arg680GlufsTer11
XM_011521881.1:c.2686_2690del XP_011520183.1:p.Arg896GlufsTer11
XM_011521881.2:c.2686_2690del XP_011520183.1:p.Arg896GlufsTer11
NM_000057.4:c.4000_4004del MANE Select NP_000048.1:p.Arg1334GlufsTer11
NM_001287246.2:c.4000_4004del NP_001274175.1:p.Arg1334GlufsTer11
NM_001287247.2:c.3607_3611del NP_001274176.1:p.Arg1203GlufsTer11
NM_001287248.2:c.2875_2879del NP_001274177.1:p.Arg959GlufsTer11