Canonical Allele Identifier: CA2195283216

Gene: BLM

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90767038_90767041delinsCATT , CM000677.2:g.90767038_90767041delinsCATT	GRCh38
NC_000015.9:g.91310268_91310271delinsCATT , CM000677.1:g.91310268_91310271delinsCATT	GRCh37
NC_000015.8:g.89111272_89111275delinsCATT	NCBI36
NG_007272.1:g.54667_54670delinsCATT , LRG_20:g.54667_54670delinsCATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.2307+15_2307+18delinsCATT MANE Select	ENSP00000347232.3:n.2307+15_2307+18delinsCATT
ENST00000648453.1:c.2307+15_2307+18delinsCATT	ENSP00000497646.1:n.2307+15_2307+18delinsCATT
ENST00000680772.1:c.2307+15_2307+18delinsCATT	ENSP00000506117.1:n.2307+15_2307+18delinsCATT
ENST00000681142.1:c.2307+15_2307+18delinsCATT	ENSP00000506682.1:n.2307+15_2307+18delinsCATT
ENST00000355112.7:c.2307+15_2307+18delinsCATT	ENSP00000347232.3:n.2307+15_2307+18delinsCATT
ENST00000559426.5:n.484+15_484+18delinsCATT
ENST00000559724.5:c.*1231+15_*1231+18delinsCATT	ENSP00000453359.1:n.*1231+15_*1231+18delinsCATT
ENST00000560136.5:n.333+15_333+18delinsCATT
ENST00000560509.5:c.2307+15_2307+18delinsCATT	ENSP00000454158.1:n.2307+15_2307+18delinsCATT
NM_000057.3:c.2307+15_2307+18delinsCATT	NP_000048.1:n.2307+15_2307+18delinsCATT
NM_001287246.1:c.2307+15_2307+18delinsCATT	NP_001274175.1:n.2307+15_2307+18delinsCATT
NM_001287247.1:c.2307+15_2307+18delinsCATT	NP_001274176.1:n.2307+15_2307+18delinsCATT
NM_001287248.1:c.1182+15_1182+18delinsCATT	NP_001274177.1:n.1182+15_1182+18delinsCATT
XM_006720632.2:c.345+15_345+18delinsCATT	XP_006720695.1:n.345+15_345+18delinsCATT
XM_011521881.1:c.993+15_993+18delinsCATT	XP_011520183.1:n.993+15_993+18delinsCATT
XM_011521882.1:c.2307+15_2307+18delinsCATT	XP_011520184.1:n.2307+15_2307+18delinsCATT
XM_011521881.2:c.993+15_993+18delinsCATT	XP_011520183.1:n.993+15_993+18delinsCATT
XM_011521882.3:c.2307+15_2307+18delinsCATT	XP_011520184.1:n.2307+15_2307+18delinsCATT
NM_000057.4:c.2307+15_2307+18delinsCATT MANE Select	NP_000048.1:n.2307+15_2307+18delinsCATT
NM_001287246.2:c.2307+15_2307+18delinsCATT	NP_001274175.1:n.2307+15_2307+18delinsCATT
NM_001287247.2:c.2307+15_2307+18delinsCATT	NP_001274176.1:n.2307+15_2307+18delinsCATT
NM_001287248.2:c.1182+15_1182+18delinsCATT	NP_001274177.1:n.1182+15_1182+18delinsCATT