Canonical Allele Identifier: CA919616382

Gene: BLM

Linked Data

• dbSNP Id: rs1596235801

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90766926dup , CM000677.2:g.90766926dup	GRCh38
NC_000015.9:g.91310156dup , CM000677.1:g.91310156dup	GRCh37
NC_000015.8:g.89111160dup	NCBI36
NG_007272.1:g.54555dup , LRG_20:g.54555dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000355112.8:c.2210dup MANE Select	ENSP00000347232.3:p.Thr738AspfsTer3
ENST00000648453.1:c.2210dup	ENSP00000497646.1:p.Thr738AspfsTer3
ENST00000680772.1:c.2210dup	ENSP00000506117.1:p.Thr738AspfsTer3
ENST00000681142.1:c.2210dup	ENSP00000506682.1:p.Thr738AspfsTer3
ENST00000355112.7:c.2210dup	ENSP00000347232.3:p.Thr738AspfsTer3
ENST00000559426.5:n.387dup
ENST00000559724.5:c.*1134dup	ENSP00000453359.1:n.*1134dup
ENST00000560136.5:n.236dup
ENST00000560509.5:c.2210dup	ENSP00000454158.1:p.Thr738AspfsTer3
NM_000057.3:c.2210dup	NP_000048.1:p.Thr738AspfsTer3
NM_001287246.1:c.2210dup	NP_001274175.1:p.Thr738AspfsTer3
NM_001287247.1:c.2210dup	NP_001274176.1:p.Thr738AspfsTer3
NM_001287248.1:c.1085dup	NP_001274177.1:p.Thr363AspfsTer3
XM_006720632.2:c.248dup	XP_006720695.1:p.Thr84AspfsTer3
XM_011521881.1:c.896dup	XP_011520183.1:p.Thr300AspfsTer3
XM_011521882.1:c.2210dup	XP_011520184.1:p.Thr738AspfsTer3
XM_011521881.2:c.896dup	XP_011520183.1:p.Thr300AspfsTer3
XM_011521882.3:c.2210dup	XP_011520184.1:p.Thr738AspfsTer3
NM_000057.4:c.2210dup MANE Select	NP_000048.1:p.Thr738AspfsTer3
NM_001287246.2:c.2210dup	NP_001274175.1:p.Thr738AspfsTer3
NM_001287247.2:c.2210dup	NP_001274176.1:p.Thr738AspfsTer3
NM_001287248.2:c.1085dup	NP_001274177.1:p.Thr363AspfsTer3