Canonical Allele Identifier: CA919616381

Gene: BLM

Linked Data

• dbSNP Id: rs1596235783

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90766924dup , CM000677.2:g.90766924dup	GRCh38
NC_000015.9:g.91310154dup , CM000677.1:g.91310154dup	GRCh37
NC_000015.8:g.89111158dup	NCBI36
NG_007272.1:g.54553dup , LRG_20:g.54553dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000355112.8:c.2208dup MANE Select	ENSP00000347232.3:p.Leu737SerfsTer4
ENST00000648453.1:c.2208dup	ENSP00000497646.1:p.Leu737SerfsTer4
ENST00000680772.1:c.2208dup	ENSP00000506117.1:p.Leu737SerfsTer4
ENST00000681142.1:c.2208dup	ENSP00000506682.1:p.Leu737SerfsTer4
ENST00000355112.7:c.2208dup	ENSP00000347232.3:p.Leu737SerfsTer4
ENST00000559426.5:n.385dup
ENST00000559724.5:c.*1132dup	ENSP00000453359.1:n.*1132dup
ENST00000560136.5:n.234dup
ENST00000560509.5:c.2208dup	ENSP00000454158.1:p.Leu737SerfsTer4
NM_000057.3:c.2208dup	NP_000048.1:p.Leu737SerfsTer4
NM_001287246.1:c.2208dup	NP_001274175.1:p.Leu737SerfsTer4
NM_001287247.1:c.2208dup	NP_001274176.1:p.Leu737SerfsTer4
NM_001287248.1:c.1083dup	NP_001274177.1:p.Leu362SerfsTer4
XM_006720632.2:c.246dup	XP_006720695.1:p.Leu83SerfsTer4
XM_011521881.1:c.894dup	XP_011520183.1:p.Leu299SerfsTer4
XM_011521882.1:c.2208dup	XP_011520184.1:p.Leu737SerfsTer4
XM_011521881.2:c.894dup	XP_011520183.1:p.Leu299SerfsTer4
XM_011521882.3:c.2208dup	XP_011520184.1:p.Leu737SerfsTer4
NM_000057.4:c.2208dup MANE Select	NP_000048.1:p.Leu737SerfsTer4
NM_001287246.2:c.2208dup	NP_001274175.1:p.Leu737SerfsTer4
NM_001287247.2:c.2208dup	NP_001274176.1:p.Leu737SerfsTer4
NM_001287248.2:c.1083dup	NP_001274177.1:p.Leu362SerfsTer4