Canonical Allele Identifier: CA16041767
Gene: BLM HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371550
ClinVar RCV Id: RCV000410940
dbSNP Id: rs1057517359

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.90754854_90754857dup , CM000677.2:g.90754854_90754857dup GRCh38
NC_000015.9:g.91298084_91298087dup , CM000677.1:g.91298084_91298087dup GRCh37
NC_000015.8:g.89099088_89099091dup NCBI36
NG_007272.1:g.42483_42486dup , LRG_20:g.42483_42486dup

Transcript Alleles

HGVS Amino-acid change
NM_000057.3:c.1003_1006dup VV NP_000048.1:p.Ser336ThrfsTer2
NM_001287246.1:c.1003_1006dup VV NP_001274175.1:p.Ser336ThrfsTer2
NM_001287247.1:c.1003_1006dup VV NP_001274176.1:p.Ser336ThrfsTer2
NM_001287248.1:c.-289_-286dup VV NP_001274177.1:p.=
XM_011521881.1:c.-179_-176dup XP_011520183.1:p.=
XM_011521882.1:c.1003_1006dup XP_011520184.1:p.Ser336ThrfsTer2
XM_011521881.2:c.-179_-176dup
XM_011521882.3:c.1003_1006dup
ENST00000355112.7:c.1003_1006dup ENSP00000347232.3:p.Ser336ThrfsTer2
ENST00000558599.1:n.264_267dup
ENST00000559724.5:c.1003_1006dup ENSP00000453359.1:p.Ser336ThrfsTer2
ENST00000560509.5:c.1003_1006dup ENSP00000454158.1:p.Ser336ThrfsTer2