Canonical Allele Identifier: CA2195297318

Gene: BLM

Linked Data

• dbSNP Id: rs1896976141

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90794260_90794263del , CM000677.2:g.90794260_90794263del	GRCh38
NC_000015.9:g.91337490_91337493del , CM000677.1:g.91337490_91337493del	GRCh37
NC_000015.8:g.89138494_89138497del	NCBI36
NG_007272.1:g.81889_81892del , LRG_20:g.81889_81892del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.3113_3116del MANE Select	ENSP00000347232.3:p.Arg1038AsnfsTer?
ENST00000560559.2:n.1686_1689del
ENST00000648453.1:c.3113_3116del	ENSP00000497646.1:p.Arg1038AsnfsTer?
ENST00000680772.1:c.3113_3116del	ENSP00000506117.1:p.Arg1038AsnfsTer?
ENST00000681142.1:c.3113_3116del	ENSP00000506682.1:p.Arg1038AsnfsTer?
ENST00000355112.7:c.3113_3116del	ENSP00000347232.3:p.Arg1038AsnfsTer?
ENST00000558825.5:n.460_463del
ENST00000559724.5:c.*2037_*2040del	ENSP00000453359.1:n.*2037_*2040del
ENST00000560136.5:n.1139_1142del
ENST00000560509.5:c.3113_3116del	ENSP00000454158.1:p.Arg1038AsnfsTer?
ENST00000560559.1:n.650_653del
NM_000057.3:c.3113_3116del	NP_000048.1:p.Arg1038AsnfsTer?
NM_001287246.1:c.3113_3116del	NP_001274175.1:p.Arg1038AsnfsTer?
NM_001287247.1:c.3113_3116del	NP_001274176.1:p.Arg1038AsnfsTer?
NM_001287248.1:c.1988_1991del	NP_001274177.1:p.Arg663AsnfsTer?
XM_006720632.2:c.1151_1154del	XP_006720695.1:p.Arg384AsnfsTer?
XM_011521881.1:c.1799_1802del	XP_011520183.1:p.Arg600AsnfsTer?
XM_011521881.2:c.1799_1802del	XP_011520183.1:p.Arg600AsnfsTer?
NM_000057.4:c.3113_3116del MANE Select	NP_000048.1:p.Arg1038AsnfsTer?
NM_001287246.2:c.3113_3116del	NP_001274175.1:p.Arg1038AsnfsTer?
NM_001287247.2:c.3113_3116del	NP_001274176.1:p.Arg1038AsnfsTer?
NM_001287248.2:c.1988_1991del	NP_001274177.1:p.Arg663AsnfsTer?