Canonical Allele Identifier: CA2573151457

Gene: BLM

Linked Data

• ClinVar Variation Id: 1392075
• ClinVar RCV Id: RCV001893400 ; RCV004041441
• dbSNP Id: rs2151184718

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90790816_90790820del , CM000677.2:g.90790816_90790820del	GRCh38
NC_000015.9:g.91334046_91334050del , CM000677.1:g.91334046_91334050del	GRCh37
NC_000015.8:g.89135050_89135054del	NCBI36
NG_007272.1:g.78445_78449del , LRG_20:g.78445_78449del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.2991_2995del MANE Select	ENSP00000347232.3:p.Val998GlnfsTer23
ENST00000560559.2:n.1564_1568del
ENST00000648453.1:c.2991_2995del	ENSP00000497646.1:p.Val998GlnfsTer23
ENST00000680772.1:c.2991_2995del	ENSP00000506117.1:p.Val998GlnfsTer23
ENST00000681142.1:c.2991_2995del	ENSP00000506682.1:p.Val998GlnfsTer23
ENST00000355112.7:c.2991_2995del	ENSP00000347232.3:p.Val998GlnfsTer23
ENST00000559724.5:c.*1915_*1919del	ENSP00000453359.1:n.*1915_*1919del
ENST00000560136.5:n.1017_1021del
ENST00000560509.5:c.2991_2995del	ENSP00000454158.1:p.Val998GlnfsTer23
ENST00000560559.1:n.528_532del
NM_000057.3:c.2991_2995del	NP_000048.1:p.Val998GlnfsTer23
NM_001287246.1:c.2991_2995del	NP_001274175.1:p.Val998GlnfsTer23
NM_001287247.1:c.2991_2995del	NP_001274176.1:p.Val998GlnfsTer23
NM_001287248.1:c.1866_1870del	NP_001274177.1:p.Val623GlnfsTer23
XM_006720632.2:c.1029_1033del	XP_006720695.1:p.Val344GlnfsTer23
XM_011521881.1:c.1677_1681del	XP_011520183.1:p.Val560GlnfsTer23
XM_011521881.2:c.1677_1681del	XP_011520183.1:p.Val560GlnfsTer23
NM_000057.4:c.2991_2995del MANE Select	NP_000048.1:p.Val998GlnfsTer23
NM_001287246.2:c.2991_2995del	NP_001274175.1:p.Val998GlnfsTer23
NM_001287247.2:c.2991_2995del	NP_001274176.1:p.Val998GlnfsTer23
NM_001287248.2:c.1866_1870del	NP_001274177.1:p.Val623GlnfsTer23