Canonical Allele Identifier: CA2195293702

Gene: BLM

Linked Data

• ClinVar Variation Id: 968023
• ClinVar RCV Id: RCV001243070
• dbSNP Id: rs1897238597

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90804345_90804346del , CM000677.2:g.90804345_90804346del	GRCh38
NC_000015.9:g.91347575_91347576del , CM000677.1:g.91347575_91347576del	GRCh37
NC_000015.8:g.89148579_89148580del	NCBI36
NG_007272.1:g.91974_91975del , LRG_20:g.91974_91975del

Transcript Alleles

HGVS	Amino-acid change
ENST00000355112.8:c.3737_3738del MANE Select	ENSP00000347232.3:p.Leu1246GlnfsTer10
ENST00000560559.2:n.2310_2311del
ENST00000648453.1:c.3737_3738del	ENSP00000497646.1:p.Leu1246GlnfsTer10
ENST00000680772.1:c.3737_3738del	ENSP00000506117.1:p.Leu1246GlnfsTer10
ENST00000681142.1:c.3737_3738del	ENSP00000506682.1:p.Leu1246GlnfsTer10
ENST00000355112.7:c.3737_3738del	ENSP00000347232.3:p.Leu1246GlnfsTer10
ENST00000558825.5:n.1084_1085del
ENST00000559724.5:c.*2661_*2662del	ENSP00000453359.1:n.*2661_*2662del
ENST00000560136.5:n.1763_1764del
ENST00000560509.5:c.3359-4792_3359-4791del	ENSP00000454158.1:n.3359-4792_3359-4791de...
NM_000057.3:c.3737_3738del	NP_000048.1:p.Leu1246GlnfsTer10
NM_001287246.1:c.3737_3738del	NP_001274175.1:p.Leu1246GlnfsTer10
NM_001287247.1:c.3359-4792_3359-4791del	NP_001274176.1:n.3359-4792_3359-4791del
NM_001287248.1:c.2612_2613del	NP_001274177.1:p.Leu871GlnfsTer10
XM_006720632.2:c.1775_1776del	XP_006720695.1:p.Leu592GlnfsTer10
XM_011521881.1:c.2423_2424del	XP_011520183.1:p.Leu808GlnfsTer10
XM_011521881.2:c.2423_2424del	XP_011520183.1:p.Leu808GlnfsTer10
NM_000057.4:c.3737_3738del MANE Select	NP_000048.1:p.Leu1246GlnfsTer10
NM_001287246.2:c.3737_3738del	NP_001274175.1:p.Leu1246GlnfsTer10
NM_001287247.2:c.3359-4792_3359-4791del	NP_001274176.1:n.3359-4792_3359-4791del
NM_001287248.2:c.2612_2613del	NP_001274177.1:p.Leu871GlnfsTer10