Canonical Allele Identifier: CA2580090295

Gene: BLM

Linked Data

• ClinVar Variation Id: 2124620
• ClinVar RCV Id: RCV003039704

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90794226_90794227del , CM000677.2:g.90794226_90794227del	GRCh38
NC_000015.9:g.91337456_91337457del , CM000677.1:g.91337456_91337457del	GRCh37
NC_000015.8:g.89138460_89138461del	NCBI36
NG_007272.1:g.81855_81856del , LRG_20:g.81855_81856del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.3079_3080del MANE Select	ENSP00000347232.3:p.Val1027ThrfsTer4
ENST00000560559.2:n.1652_1653del
ENST00000648453.1:c.3079_3080del	ENSP00000497646.1:p.Val1027ThrfsTer4
ENST00000680772.1:c.3079_3080del	ENSP00000506117.1:p.Val1027ThrfsTer4
ENST00000681142.1:c.3079_3080del	ENSP00000506682.1:p.Val1027ThrfsTer4
ENST00000355112.7:c.3079_3080del	ENSP00000347232.3:p.Val1027ThrfsTer4
ENST00000558825.5:n.426_427del
ENST00000559724.5:c.*2003_*2004del	ENSP00000453359.1:n.*2003_*2004del
ENST00000560136.5:n.1105_1106del
ENST00000560509.5:c.3079_3080del	ENSP00000454158.1:p.Val1027ThrfsTer4
ENST00000560559.1:n.616_617del
NM_000057.3:c.3079_3080del	NP_000048.1:p.Val1027ThrfsTer4
NM_001287246.1:c.3079_3080del	NP_001274175.1:p.Val1027ThrfsTer4
NM_001287247.1:c.3079_3080del	NP_001274176.1:p.Val1027ThrfsTer4
NM_001287248.1:c.1954_1955del	NP_001274177.1:p.Val652ThrfsTer4
XM_006720632.2:c.1117_1118del	XP_006720695.1:p.Val373ThrfsTer4
XM_011521881.1:c.1765_1766del	XP_011520183.1:p.Val589ThrfsTer4
XM_011521881.2:c.1765_1766del	XP_011520183.1:p.Val589ThrfsTer4
NM_000057.4:c.3079_3080del MANE Select	NP_000048.1:p.Val1027ThrfsTer4
NM_001287246.2:c.3079_3080del	NP_001274175.1:p.Val1027ThrfsTer4
NM_001287247.2:c.3079_3080del	NP_001274176.1:p.Val1027ThrfsTer4
NM_001287248.2:c.1954_1955del	NP_001274177.1:p.Val652ThrfsTer4