Canonical Allele Identifier: CA2580613327

Gene: BLM

Linked Data

• ClinVar Variation Id: 2506225
• ClinVar RCV Id: RCV003236456

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90790830_90790844del , CM000677.2:g.90790830_90790844del	GRCh38
NC_000015.9:g.91334060_91334074del , CM000677.1:g.91334060_91334074del	GRCh37
NC_000015.8:g.89135064_89135078del	NCBI36
NG_007272.1:g.78459_78473del , LRG_20:g.78459_78473del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.3005_3019del MANE Select	ENSP00000347232.3:p.Lys1002_Met1006del
ENST00000560559.2:n.1578_1592del
ENST00000648453.1:c.3005_3019del	ENSP00000497646.1:p.Lys1002_Met1006del
ENST00000680772.1:c.3005_3019del	ENSP00000506117.1:p.Lys1002_Met1006del
ENST00000681142.1:c.3005_3019del	ENSP00000506682.1:p.Lys1002_Met1006del
ENST00000355112.7:c.3005_3019del	ENSP00000347232.3:p.Lys1002_Met1006del
ENST00000559724.5:c.*1929_*1943del	ENSP00000453359.1:n.*1929_*1943del
ENST00000560136.5:n.1031_1045del
ENST00000560509.5:c.3005_3019del	ENSP00000454158.1:p.Lys1002_Met1006del
ENST00000560559.1:n.542_556del
NM_000057.3:c.3005_3019del	NP_000048.1:p.Lys1002_Met1006del
NM_001287246.1:c.3005_3019del	NP_001274175.1:p.Lys1002_Met1006del
NM_001287247.1:c.3005_3019del	NP_001274176.1:p.Lys1002_Met1006del
NM_001287248.1:c.1880_1894del	NP_001274177.1:p.Lys627_Met631del
XM_006720632.2:c.1043_1057del	XP_006720695.1:p.Lys348_Met352del
XM_011521881.1:c.1691_1705del	XP_011520183.1:p.Lys564_Met568del
XM_011521881.2:c.1691_1705del	XP_011520183.1:p.Lys564_Met568del
NM_000057.4:c.3005_3019del MANE Select	NP_000048.1:p.Lys1002_Met1006del
NM_001287246.2:c.3005_3019del	NP_001274175.1:p.Lys1002_Met1006del
NM_001287247.2:c.3005_3019del	NP_001274176.1:p.Lys1002_Met1006del
NM_001287248.2:c.1880_1894del	NP_001274177.1:p.Lys627_Met631del