Canonical Allele Identifier: CA2630382090

Gene: BLM

Linked Data

• gnomAD v4: 15-90793958-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90793960del , CM000677.2:g.90793960del	GRCh38
NC_000015.9:g.91337190del , CM000677.1:g.91337190del	GRCh37
NC_000015.8:g.89138194del	NCBI36
NG_007272.1:g.81589del , LRG_20:g.81589del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.3020-207del MANE Select	ENSP00000347232.3:n.3020-207del
ENST00000560559.2:n.1593-207del
ENST00000648453.1:c.3020-207del	ENSP00000497646.1:n.3020-207del
ENST00000680772.1:c.3020-207del	ENSP00000506117.1:n.3020-207del
ENST00000681142.1:c.3020-207del	ENSP00000506682.1:n.3020-207del
ENST00000355112.7:c.3020-207del	ENSP00000347232.3:n.3020-207del
ENST00000558825.5:n.160del
ENST00000559724.5:c.*1944-207del	ENSP00000453359.1:n.*1944-207del
ENST00000560136.5:n.1046-207del
ENST00000560509.5:c.3020-207del	ENSP00000454158.1:n.3020-207del
ENST00000560559.1:n.557-207del
NM_000057.3:c.3020-207del	NP_000048.1:n.3020-207del
NM_001287246.1:c.3020-207del	NP_001274175.1:n.3020-207del
NM_001287247.1:c.3020-207del	NP_001274176.1:n.3020-207del
NM_001287248.1:c.1895-207del	NP_001274177.1:n.1895-207del
XM_006720632.2:c.1058-207del	XP_006720695.1:n.1058-207del
XM_011521881.1:c.1706-207del	XP_011520183.1:n.1706-207del
XM_011521881.2:c.1706-207del	XP_011520183.1:n.1706-207del
NM_000057.4:c.3020-207del MANE Select	NP_000048.1:n.3020-207del
NM_001287246.2:c.3020-207del	NP_001274175.1:n.3020-207del
NM_001287247.2:c.3020-207del	NP_001274176.1:n.3020-207del
NM_001287248.2:c.1895-207del	NP_001274177.1:n.1895-207del