Canonical Allele Identifier: CA2575836085

Gene: BLM

Linked Data

• ClinVar Variation Id: 2019533
• ClinVar RCV Id: RCV002847174
• gnomAD v4: 15-90790835-C-CTTA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90790837_90790839dup , CM000677.2:g.90790837_90790839dup	GRCh38
NC_000015.9:g.91334067_91334069dup , CM000677.1:g.91334067_91334069dup	GRCh37
NC_000015.8:g.89135071_89135073dup	NCBI36
NG_007272.1:g.78466_78468dup , LRG_20:g.78466_78468dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.3012_3014dup MANE Select	ENSP00000347232.3:p.Ile1005_Met1006insIle
ENST00000560559.2:n.1585_1587dup
ENST00000648453.1:c.3012_3014dup	ENSP00000497646.1:p.Ile1005_Met1006insIle
ENST00000680772.1:c.3012_3014dup	ENSP00000506117.1:p.Ile1005_Met1006insIle
ENST00000681142.1:c.3012_3014dup	ENSP00000506682.1:p.Ile1005_Met1006insIle
ENST00000355112.7:c.3012_3014dup	ENSP00000347232.3:p.Ile1005_Met1006insIle
ENST00000559724.5:c.*1936_*1938dup	ENSP00000453359.1:n.*1936_*1938dup
ENST00000560136.5:n.1038_1040dup
ENST00000560509.5:c.3012_3014dup	ENSP00000454158.1:p.Ile1005_Met1006insIle
ENST00000560559.1:n.549_551dup
NM_000057.3:c.3012_3014dup	NP_000048.1:p.Ile1005_Met1006insIle
NM_001287246.1:c.3012_3014dup	NP_001274175.1:p.Ile1005_Met1006insIle
NM_001287247.1:c.3012_3014dup	NP_001274176.1:p.Ile1005_Met1006insIle
NM_001287248.1:c.1887_1889dup	NP_001274177.1:p.Ile630_Met631insIle
XM_006720632.2:c.1050_1052dup	XP_006720695.1:p.Ile351_Met352insIle
XM_011521881.1:c.1698_1700dup	XP_011520183.1:p.Ile567_Met568insIle
XM_011521881.2:c.1698_1700dup	XP_011520183.1:p.Ile567_Met568insIle
NM_000057.4:c.3012_3014dup MANE Select	NP_000048.1:p.Ile1005_Met1006insIle
NM_001287246.2:c.3012_3014dup	NP_001274175.1:p.Ile1005_Met1006insIle
NM_001287247.2:c.3012_3014dup	NP_001274176.1:p.Ile1005_Met1006insIle
NM_001287248.2:c.1887_1889dup	NP_001274177.1:p.Ile630_Met631insIle