Canonical Allele Identifier: CA2630384195

Gene: BLM

Linked Data

• gnomAD v4: 15-90811290-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90811291del , CM000677.2:g.90811291del	GRCh38
NC_000015.9:g.91354521del , CM000677.1:g.91354521del	GRCh37
NC_000015.8:g.89155525del	NCBI36
NG_007272.1:g.98920del , LRG_20:g.98920del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.3961del MANE Select	ENSP00000347232.3:p.Val1321TyrfsTer?
ENST00000560559.2:n.2534del
ENST00000648453.1:c.3961del	ENSP00000497646.1:p.Val1321TyrfsTer?
ENST00000680772.1:c.3961del	ENSP00000506117.1:p.Val1321TyrfsTer?
ENST00000681142.1:c.3961del	ENSP00000506682.1:p.Val1321TyrfsTer?
ENST00000355112.7:c.3961del	ENSP00000347232.3:p.Val1321TyrfsTer?
ENST00000558825.5:n.1308del
ENST00000559724.5:c.*2885del	ENSP00000453359.1:n.*2885del
ENST00000560136.5:n.1987del
ENST00000560509.5:c.3568del	ENSP00000454158.1:p.Val1190TyrfsTer?
ENST00000560821.1:n.381del
NM_000057.3:c.3961del	NP_000048.1:p.Val1321TyrfsTer?
NM_001287246.1:c.3961del	NP_001274175.1:p.Val1321TyrfsTer?
NM_001287247.1:c.3568del	NP_001274176.1:p.Val1190TyrfsTer?
NM_001287248.1:c.2836del	NP_001274177.1:p.Val946TyrfsTer?
XM_006720632.2:c.1999del	XP_006720695.1:p.Val667TyrfsTer?
XM_011521881.1:c.2647del	XP_011520183.1:p.Val883TyrfsTer?
XM_011521881.2:c.2647del	XP_011520183.1:p.Val883TyrfsTer?
NM_000057.4:c.3961del MANE Select	NP_000048.1:p.Val1321TyrfsTer?
NM_001287246.2:c.3961del	NP_001274175.1:p.Val1321TyrfsTer?
NM_001287247.2:c.3568del	NP_001274176.1:p.Val1190TyrfsTer?
NM_001287248.2:c.2836del	NP_001274177.1:p.Val946TyrfsTer?