Canonical Allele Identifier: CA2499223165

Gene: BLM

Linked Data

• ClinVar Variation Id: 1074060
• ClinVar RCV Id: RCV001387237
• dbSNP Id: rs2151184585
• gnomAD v4: 15-90790740-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90790742del , CM000677.2:g.90790742del	GRCh38
NC_000015.9:g.91333972del , CM000677.1:g.91333972del	GRCh37
NC_000015.8:g.89134976del	NCBI36
NG_007272.1:g.78371del , LRG_20:g.78371del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.2917del MANE Select	ENSP00000347232.3:p.Tyr973ThrfsTer26
ENST00000560559.2:n.1490del
ENST00000648453.1:c.2917del	ENSP00000497646.1:p.Tyr973ThrfsTer26
ENST00000680772.1:c.2917del	ENSP00000506117.1:p.Tyr973ThrfsTer26
ENST00000681142.1:c.2917del	ENSP00000506682.1:p.Tyr973ThrfsTer26
ENST00000355112.7:c.2917del	ENSP00000347232.3:p.Tyr973ThrfsTer26
ENST00000559724.5:c.*1841del	ENSP00000453359.1:n.*1841del
ENST00000560136.5:n.943del
ENST00000560509.5:c.2917del	ENSP00000454158.1:p.Tyr973ThrfsTer26
ENST00000560559.1:n.454del
NM_000057.3:c.2917del	NP_000048.1:p.Tyr973ThrfsTer26
NM_001287246.1:c.2917del	NP_001274175.1:p.Tyr973ThrfsTer26
NM_001287247.1:c.2917del	NP_001274176.1:p.Tyr973ThrfsTer26
NM_001287248.1:c.1792del	NP_001274177.1:p.Tyr598ThrfsTer26
XM_006720632.2:c.955del	XP_006720695.1:p.Tyr319ThrfsTer26
XM_011521881.1:c.1603del	XP_011520183.1:p.Tyr535ThrfsTer26
XM_011521881.2:c.1603del	XP_011520183.1:p.Tyr535ThrfsTer26
NM_000057.4:c.2917del MANE Select	NP_000048.1:p.Tyr973ThrfsTer26
NM_001287246.2:c.2917del	NP_001274175.1:p.Tyr973ThrfsTer26
NM_001287247.2:c.2917del	NP_001274176.1:p.Tyr973ThrfsTer26
NM_001287248.2:c.1792del	NP_001274177.1:p.Tyr598ThrfsTer26