Canonical Allele Identifier: CA2630381769

Gene: BLM

Linked Data

• gnomAD v4: 15-90790742-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90790743dup , CM000677.2:g.90790743dup	GRCh38
NC_000015.9:g.91333973dup , CM000677.1:g.91333973dup	GRCh37
NC_000015.8:g.89134977dup	NCBI36
NG_007272.1:g.78372dup , LRG_20:g.78372dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.2918dup MANE Select	ENSP00000347232.3:p.Tyr973Ter
ENST00000560559.2:n.1491dup
ENST00000648453.1:c.2918dup	ENSP00000497646.1:p.Tyr973Ter
ENST00000680772.1:c.2918dup	ENSP00000506117.1:p.Tyr973Ter
ENST00000681142.1:c.2918dup	ENSP00000506682.1:p.Tyr973Ter
ENST00000355112.7:c.2918dup	ENSP00000347232.3:p.Tyr973Ter
ENST00000559724.5:c.*1842dup	ENSP00000453359.1:n.*1842dup
ENST00000560136.5:n.944dup
ENST00000560509.5:c.2918dup	ENSP00000454158.1:p.Tyr973Ter
ENST00000560559.1:n.455dup
NM_000057.3:c.2918dup	NP_000048.1:p.Tyr973Ter
NM_001287246.1:c.2918dup	NP_001274175.1:p.Tyr973Ter
NM_001287247.1:c.2918dup	NP_001274176.1:p.Tyr973Ter
NM_001287248.1:c.1793dup	NP_001274177.1:p.Tyr598Ter
XM_006720632.2:c.956dup	XP_006720695.1:p.Tyr319Ter
XM_011521881.1:c.1604dup	XP_011520183.1:p.Tyr535Ter
XM_011521881.2:c.1604dup	XP_011520183.1:p.Tyr535Ter
NM_000057.4:c.2918dup MANE Select	NP_000048.1:p.Tyr973Ter
NM_001287246.2:c.2918dup	NP_001274175.1:p.Tyr973Ter
NM_001287247.2:c.2918dup	NP_001274176.1:p.Tyr973Ter
NM_001287248.2:c.1793dup	NP_001274177.1:p.Tyr598Ter