Canonical Allele Identifier: CA2573151479

Gene: BLM

Linked Data

• ClinVar Variation Id: 1444751
• ClinVar RCV Id: RCV001955979
• dbSNP Id: rs367543020

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90804289dup , CM000677.2:g.90804289dup	GRCh38
NC_000015.9:g.91347519dup , CM000677.1:g.91347519dup	GRCh37
NC_000015.8:g.89148523dup	NCBI36
NG_007272.1:g.91918dup , LRG_20:g.91918dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000355112.8:c.3681dup MANE Select	ENSP00000347232.3:p.Ser1228IlefsTer15
ENST00000560559.2:n.2254dup
ENST00000648453.1:c.3681dup	ENSP00000497646.1:p.Ser1228IlefsTer15
ENST00000680772.1:c.3681dup	ENSP00000506117.1:p.Ser1228IlefsTer15
ENST00000681142.1:c.3681dup	ENSP00000506682.1:p.Ser1228IlefsTer15
ENST00000355112.7:c.3681dup	ENSP00000347232.3:p.Ser1228IlefsTer15
ENST00000558825.5:n.1028dup
ENST00000559724.5:c.*2605dup	ENSP00000453359.1:n.*2605dup
ENST00000560136.5:n.1707dup
ENST00000560509.5:c.3359-4848dup	ENSP00000454158.1:n.3359-4848dup
NM_000057.3:c.3681dup	NP_000048.1:p.Ser1228IlefsTer15
NM_001287246.1:c.3681dup	NP_001274175.1:p.Ser1228IlefsTer15
NM_001287247.1:c.3359-4848dup	NP_001274176.1:n.3359-4848dup
NM_001287248.1:c.2556dup	NP_001274177.1:p.Ser853IlefsTer15
XM_006720632.2:c.1719dup	XP_006720695.1:p.Ser574IlefsTer15
XM_011521881.1:c.2367dup	XP_011520183.1:p.Ser790IlefsTer15
XM_011521881.2:c.2367dup	XP_011520183.1:p.Ser790IlefsTer15
NM_000057.4:c.3681dup MANE Select	NP_000048.1:p.Ser1228IlefsTer15
NM_001287246.2:c.3681dup	NP_001274175.1:p.Ser1228IlefsTer15
NM_001287247.2:c.3359-4848dup	NP_001274176.1:n.3359-4848dup
NM_001287248.2:c.2556dup	NP_001274177.1:p.Ser853IlefsTer15