Canonical Allele Identifier: CA16041765
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 370185
ClinVar RCV Id: RCV000411717
dbSNP Id: rs1057516297
MyVariant Identifiers: chr15:g.91292941dupT (hg19) chr15:g.90749711dupT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.90749711dup , CM000677.2:g.90749711dup GRCh38
NC_000015.9:g.91292941dup , CM000677.1:g.91292941dup GRCh37
NC_000015.8:g.89093945dup NCBI36
NG_007272.1:g.37340dup , LRG_20:g.37340dup

Transcript Alleles

HGVS Amino-acid change
ENST00000355112.8:c.443dup MANE Select ENSP00000347232.3:p.Leu148PhefsTer6
ENST00000648453.1:c.443dup ENSP00000497646.1:p.Leu148PhefsTer6
ENST00000680772.1:c.443dup ENSP00000506117.1:p.Leu148PhefsTer6
ENST00000681142.1:c.443dup ENSP00000506682.1:p.Leu148PhefsTer6
ENST00000355112.7:c.443dup ENSP00000347232.3:p.Leu148PhefsTer6
ENST00000559282.1:n.617dup
ENST00000559724.5:c.443dup ENSP00000453359.1:p.Leu148PhefsTer6
ENST00000560509.5:c.443dup ENSP00000454158.1:p.Leu148PhefsTer6
NM_000057.3:c.443dup NP_000048.1:p.Leu148PhefsTer6
NM_001287246.1:c.443dup NP_001274175.1:p.Leu148PhefsTer6
NM_001287247.1:c.443dup NP_001274176.1:p.Leu148PhefsTer6
NM_001287248.1:c.-849dup NP_001274177.1:n.-849dup
XM_011521882.1:c.443dup XP_011520184.1:p.Leu148PhefsTer6
XM_011521882.3:c.443dup XP_011520184.1:p.Leu148PhefsTer6
NM_000057.4:c.443dup MANE Select NP_000048.1:p.Leu148PhefsTer6
NM_001287246.2:c.443dup NP_001274175.1:p.Leu148PhefsTer6
NM_001287247.2:c.443dup NP_001274176.1:p.Leu148PhefsTer6
NM_001287248.2:c.-849dup NP_001274177.1:n.-849dup
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