Canonical Allele Identifier: CA2195302302

Gene: BLM

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90811175_90811177delinsCCT , CM000677.2:g.90811175_90811177delinsCCT	GRCh38
NC_000015.9:g.91354405_91354407delinsCCT , CM000677.1:g.91354405_91354407delinsCCT	GRCh37
NC_000015.8:g.89155409_89155411delinsCCT	NCBI36
NG_007272.1:g.98804_98806delinsCCT , LRG_20:g.98804_98806delinsCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.3875-30_3875-28delinsCCT MANE Select	ENSP00000347232.3:n.3875-30_3875-28delinsCCT
ENST00000560559.2:n.2448-30_2448-28delinsCCT
ENST00000648453.1:c.3875-30_3875-28delinsCCT	ENSP00000497646.1:n.3875-30_3875-28delinsCCT
ENST00000680772.1:c.3875-30_3875-28delinsCCT	ENSP00000506117.1:n.3875-30_3875-28delinsCCT
ENST00000681142.1:c.3875-30_3875-28delinsCCT	ENSP00000506682.1:n.3875-30_3875-28delinsCCT
ENST00000355112.7:c.3875-30_3875-28delinsCCT	ENSP00000347232.3:n.3875-30_3875-28delinsCCT
ENST00000558825.5:n.1222-30_1222-28delinsCCT
ENST00000559724.5:c.*2799-30_*2799-28delinsCCT	ENSP00000453359.1:n.*2799-30_*2799-28delinsCCT
ENST00000560136.5:n.1901-30_1901-28delinsCCT
ENST00000560509.5:c.3482-30_3482-28delinsCCT	ENSP00000454158.1:n.3482-30_3482-28delinsCCT
ENST00000560821.1:n.295-30_295-28delinsCCT
NM_000057.3:c.3875-30_3875-28delinsCCT	NP_000048.1:n.3875-30_3875-28delinsCCT
NM_001287246.1:c.3875-30_3875-28delinsCCT	NP_001274175.1:n.3875-30_3875-28delinsCCT
NM_001287247.1:c.3482-30_3482-28delinsCCT	NP_001274176.1:n.3482-30_3482-28delinsCCT
NM_001287248.1:c.2750-30_2750-28delinsCCT	NP_001274177.1:n.2750-30_2750-28delinsCCT
XM_006720632.2:c.1913-30_1913-28delinsCCT	XP_006720695.1:n.1913-30_1913-28delinsCCT
XM_011521881.1:c.2561-30_2561-28delinsCCT	XP_011520183.1:n.2561-30_2561-28delinsCCT
XM_011521881.2:c.2561-30_2561-28delinsCCT	XP_011520183.1:n.2561-30_2561-28delinsCCT
NM_000057.4:c.3875-30_3875-28delinsCCT MANE Select	NP_000048.1:n.3875-30_3875-28delinsCCT
NM_001287246.2:c.3875-30_3875-28delinsCCT	NP_001274175.1:n.3875-30_3875-28delinsCCT
NM_001287247.2:c.3482-30_3482-28delinsCCT	NP_001274176.1:n.3482-30_3482-28delinsCCT
NM_001287248.2:c.2750-30_2750-28delinsCCT	NP_001274177.1:n.2750-30_2750-28delinsCCT