Canonical Allele Identifier: CA16614958
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 405328
ClinVar RCV Id: RCV002429478 RCV003441865
dbSNP Id: rs1060500652
gnomAD v2: 15-91308642-GATGTAAGTT-G
gnomAD v3: 15-90765412-GATGTAAGTT-G
gnomAD v4: 15-90765412-GATGTAAGTT-G
MyVariant Identifiers: chr15:g.91308645_91308653del (hg19) chr15:g.91308643_91308651del (hg19) chr15:g.90765415_90765423del (hg38) chr15:g.90765414_90765422del (hg38) chr15:g.90765413_90765421del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.90765415_90765423del , CM000677.2:g.90765415_90765423del GRCh38
NC_000015.9:g.91308645_91308653del , CM000677.1:g.91308645_91308653del GRCh37
NC_000015.8:g.89109649_89109657del NCBI36
NG_007272.1:g.53044_53052del , LRG_20:g.53044_53052del

Transcript Alleles

HGVS Amino-acid change
ENST00000355112.8:c.2193+1_2193+9del
ENST00000648453.1:c.2193+1_2193+9del
ENST00000680772.1:c.2193+1_2193+9del
ENST00000681142.1:c.2193+1_2193+9del
ENST00000355112.7:c.2193+1_2193+9del
ENST00000559426.5:n.370+1_370+9del
ENST00000559724.5:c.*1117+1_*1117+9del
ENST00000560136.5:n.220-1495_220-1487del
ENST00000560509.5:c.2193+1_2193+9del
NM_000057.3:c.2193+1_2193+9del
NM_001287246.1:c.2193+1_2193+9del
NM_001287247.1:c.2193+1_2193+9del
NM_001287248.1:c.1068+1_1068+9del
XM_006720632.2:c.231+1_231+9del
XM_011521881.1:c.879+1_879+9del
XM_011521882.1:c.2193+1_2193+9del
XM_011521881.2:c.879+1_879+9del
XM_011521882.3:c.2193+1_2193+9del
NM_000057.4:c.2193+1_2193+9del
NM_001287246.2:c.2193+1_2193+9del
NM_001287247.2:c.2193+1_2193+9del
NM_001287248.2:c.1068+1_1068+9del
Search 100 bp 5'
Search 100 bp 3'