Canonical Allele Identifier: CA2580613329

Gene: BLM

Linked Data

• ClinVar Variation Id: 1995994
• ClinVar RCV Id: RCV002801720

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90790867_90790868del , CM000677.2:g.90790867_90790868del	GRCh38
NC_000015.9:g.91334097_91334098del , CM000677.1:g.91334097_91334098del	GRCh37
NC_000015.8:g.89135101_89135102del	NCBI36
NG_007272.1:g.78496_78497del , LRG_20:g.78496_78497del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.3019+23_3019+24del MANE Select	ENSP00000347232.3:n.3019+23_3019+24del
ENST00000560559.2:n.1592+23_1592+24del
ENST00000648453.1:c.3019+23_3019+24del	ENSP00000497646.1:n.3019+23_3019+24del
ENST00000680772.1:c.3019+23_3019+24del	ENSP00000506117.1:n.3019+23_3019+24del
ENST00000681142.1:c.3019+23_3019+24del	ENSP00000506682.1:n.3019+23_3019+24del
ENST00000355112.7:c.3019+23_3019+24del	ENSP00000347232.3:n.3019+23_3019+24del
ENST00000559724.5:c.*1943+23_*1943+24del	ENSP00000453359.1:n.*1943+23_*1943+24del
ENST00000560136.5:n.1045+23_1045+24del
ENST00000560509.5:c.3019+23_3019+24del	ENSP00000454158.1:n.3019+23_3019+24del
ENST00000560559.1:n.556+23_556+24del
NM_000057.3:c.3019+23_3019+24del	NP_000048.1:n.3019+23_3019+24del
NM_001287246.1:c.3019+23_3019+24del	NP_001274175.1:n.3019+23_3019+24del
NM_001287247.1:c.3019+23_3019+24del	NP_001274176.1:n.3019+23_3019+24del
NM_001287248.1:c.1894+23_1894+24del	NP_001274177.1:n.1894+23_1894+24del
XM_006720632.2:c.1057+23_1057+24del	XP_006720695.1:n.1057+23_1057+24del
XM_011521881.1:c.1705+23_1705+24del	XP_011520183.1:n.1705+23_1705+24del
XM_011521881.2:c.1705+23_1705+24del	XP_011520183.1:n.1705+23_1705+24del
NM_000057.4:c.3019+23_3019+24del MANE Select	NP_000048.1:n.3019+23_3019+24del
NM_001287246.2:c.3019+23_3019+24del	NP_001274175.1:n.3019+23_3019+24del
NM_001287247.2:c.3019+23_3019+24del	NP_001274176.1:n.3019+23_3019+24del
NM_001287248.2:c.1894+23_1894+24del	NP_001274177.1:n.1894+23_1894+24del