Canonical Allele Identifier: CA2580090285

Gene: BLM

Linked Data

• ClinVar Variation Id: 2033919
• ClinVar RCV Id: RCV002872739

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90811343dup , CM000677.2:g.90811343dup	GRCh38
NC_000015.9:g.91354573dup , CM000677.1:g.91354573dup	GRCh37
NC_000015.8:g.89155577dup	NCBI36
NG_007272.1:g.98972dup , LRG_20:g.98972dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000355112.8:c.4013dup MANE Select	ENSP00000347232.3:p.Met1339AspfsTer8
ENST00000560559.2:n.2586dup
ENST00000648453.1:c.4013dup	ENSP00000497646.1:p.Met1339AspfsTer8
ENST00000680772.1:c.4013dup	ENSP00000506117.1:p.Met1339AspfsTer8
ENST00000681142.1:c.4013dup	ENSP00000506682.1:p.Met1339AspfsTer8
ENST00000355112.7:c.4013dup	ENSP00000347232.3:p.Met1339AspfsTer8
ENST00000558825.5:n.1360dup
ENST00000559724.5:c.*2937dup	ENSP00000453359.1:n.*2937dup
ENST00000560509.5:c.3620dup	ENSP00000454158.1:p.Met1208AspfsTer8
ENST00000560821.1:n.433dup
NM_000057.3:c.4013dup	NP_000048.1:p.Met1339AspfsTer8
NM_001287246.1:c.4013dup	NP_001274175.1:p.Met1339AspfsTer8
NM_001287247.1:c.3620dup	NP_001274176.1:p.Met1208AspfsTer8
NM_001287248.1:c.2888dup	NP_001274177.1:p.Met964AspfsTer8
XM_006720632.2:c.2051dup	XP_006720695.1:p.Met685AspfsTer8
XM_011521881.1:c.2699dup	XP_011520183.1:p.Met901AspfsTer8
XM_011521881.2:c.2699dup	XP_011520183.1:p.Met901AspfsTer8
NM_000057.4:c.4013dup MANE Select	NP_000048.1:p.Met1339AspfsTer8
NM_001287246.2:c.4013dup	NP_001274175.1:p.Met1339AspfsTer8
NM_001287247.2:c.3620dup	NP_001274176.1:p.Met1208AspfsTer8
NM_001287248.2:c.2888dup	NP_001274177.1:p.Met964AspfsTer8