Canonical Allele Identifier: CA2630380856

Gene: BLM

Linked Data

• gnomAD v4: 15-90767069-AATAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90767073_90767076del , CM000677.2:g.90767073_90767076del	GRCh38
NC_000015.9:g.91310303_91310306del , CM000677.1:g.91310303_91310306del	GRCh37
NC_000015.8:g.89111307_89111310del	NCBI36
NG_007272.1:g.54702_54705del , LRG_20:g.54702_54705del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.2307+50_2307+53del MANE Select	ENSP00000347232.3:n.2307+50_2307+53del
ENST00000648453.1:c.2307+50_2307+53del	ENSP00000497646.1:n.2307+50_2307+53del
ENST00000680772.1:c.2307+50_2307+53del	ENSP00000506117.1:n.2307+50_2307+53del
ENST00000681142.1:c.2307+50_2307+53del	ENSP00000506682.1:n.2307+50_2307+53del
ENST00000355112.7:c.2307+50_2307+53del	ENSP00000347232.3:n.2307+50_2307+53del
ENST00000559426.5:n.484+50_484+53del
ENST00000559724.5:c.*1231+50_*1231+53del	ENSP00000453359.1:n.*1231+50_*1231+53del
ENST00000560136.5:n.333+50_333+53del
ENST00000560509.5:c.2307+50_2307+53del	ENSP00000454158.1:n.2307+50_2307+53del
NM_000057.3:c.2307+50_2307+53del	NP_000048.1:n.2307+50_2307+53del
NM_001287246.1:c.2307+50_2307+53del	NP_001274175.1:n.2307+50_2307+53del
NM_001287247.1:c.2307+50_2307+53del	NP_001274176.1:n.2307+50_2307+53del
NM_001287248.1:c.1182+50_1182+53del	NP_001274177.1:n.1182+50_1182+53del
XM_006720632.2:c.345+50_345+53del	XP_006720695.1:n.345+50_345+53del
XM_011521881.1:c.993+50_993+53del	XP_011520183.1:n.993+50_993+53del
XM_011521882.1:c.2307+50_2307+53del	XP_011520184.1:n.2307+50_2307+53del
XM_011521881.2:c.993+50_993+53del	XP_011520183.1:n.993+50_993+53del
XM_011521882.3:c.2307+50_2307+53del	XP_011520184.1:n.2307+50_2307+53del
NM_000057.4:c.2307+50_2307+53del MANE Select	NP_000048.1:n.2307+50_2307+53del
NM_001287246.2:c.2307+50_2307+53del	NP_001274175.1:n.2307+50_2307+53del
NM_001287247.2:c.2307+50_2307+53del	NP_001274176.1:n.2307+50_2307+53del
NM_001287248.2:c.1182+50_1182+53del	NP_001274177.1:n.1182+50_1182+53del