Canonical Allele Identifier: CA2499223166

Gene: BLM

Linked Data

• ClinVar Variation Id: 1076386
• ClinVar RCV Id: RCV001390289
• dbSNP Id: rs2151184759

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90790836_90790837del , CM000677.2:g.90790836_90790837del	GRCh38
NC_000015.9:g.91334066_91334067del , CM000677.1:g.91334066_91334067del	GRCh37
NC_000015.8:g.89135070_89135071del	NCBI36
NG_007272.1:g.78465_78466del , LRG_20:g.78465_78466del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.3011_3012del MANE Select	ENSP00000347232.3:p.Leu1004HisfsTer18
ENST00000560559.2:n.1584_1585del
ENST00000648453.1:c.3011_3012del	ENSP00000497646.1:p.Leu1004HisfsTer18
ENST00000680772.1:c.3011_3012del	ENSP00000506117.1:p.Leu1004HisfsTer18
ENST00000681142.1:c.3011_3012del	ENSP00000506682.1:p.Leu1004HisfsTer18
ENST00000355112.7:c.3011_3012del	ENSP00000347232.3:p.Leu1004HisfsTer18
ENST00000559724.5:c.*1935_*1936del	ENSP00000453359.1:n.*1935_*1936del
ENST00000560136.5:n.1037_1038del
ENST00000560509.5:c.3011_3012del	ENSP00000454158.1:p.Leu1004HisfsTer18
ENST00000560559.1:n.548_549del
NM_000057.3:c.3011_3012del	NP_000048.1:p.Leu1004HisfsTer18
NM_001287246.1:c.3011_3012del	NP_001274175.1:p.Leu1004HisfsTer18
NM_001287247.1:c.3011_3012del	NP_001274176.1:p.Leu1004HisfsTer18
NM_001287248.1:c.1886_1887del	NP_001274177.1:p.Leu629HisfsTer18
XM_006720632.2:c.1049_1050del	XP_006720695.1:p.Leu350HisfsTer18
XM_011521881.1:c.1697_1698del	XP_011520183.1:p.Leu566HisfsTer18
XM_011521881.2:c.1697_1698del	XP_011520183.1:p.Leu566HisfsTer18
NM_000057.4:c.3011_3012del MANE Select	NP_000048.1:p.Leu1004HisfsTer18
NM_001287246.2:c.3011_3012del	NP_001274175.1:p.Leu1004HisfsTer18
NM_001287247.2:c.3011_3012del	NP_001274176.1:p.Leu1004HisfsTer18
NM_001287248.2:c.1886_1887del	NP_001274177.1:p.Leu629HisfsTer18