Canonical Allele Identifier: CA2195302367

Gene: BLM

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90811295_90811296delinsCT , CM000677.2:g.90811295_90811296delinsCT	GRCh38
NC_000015.9:g.91354525_91354526delinsCT , CM000677.1:g.91354525_91354526delinsCT	GRCh37
NC_000015.8:g.89155529_89155530delinsCT	NCBI36
NG_007272.1:g.98924_98925delinsCT , LRG_20:g.98924_98925delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.3965_3966delinsCT MANE Select	ENSP00000347232.3:p.Ser1322=
ENST00000560559.2:n.2538_2539delinsCT
ENST00000648453.1:c.3965_3966delinsCT	ENSP00000497646.1:p.Ser1322=
ENST00000680772.1:c.3965_3966delinsCT	ENSP00000506117.1:p.Ser1322=
ENST00000681142.1:c.3965_3966delinsCT	ENSP00000506682.1:p.Ser1322=
ENST00000355112.7:c.3965_3966delinsCT	ENSP00000347232.3:p.Ser1322=
ENST00000558825.5:n.1312_1313delinsCT
ENST00000559724.5:c.*2889_*2890delinsCT	ENSP00000453359.1:n.*2889_*2890delinsCT
ENST00000560136.5:n.1991_1992delinsCT
ENST00000560509.5:c.3572_3573delinsCT	ENSP00000454158.1:p.Ser1191=
ENST00000560821.1:n.385_386delinsCT
NM_000057.3:c.3965_3966delinsCT	NP_000048.1:p.Ser1322=
NM_001287246.1:c.3965_3966delinsCT	NP_001274175.1:p.Ser1322=
NM_001287247.1:c.3572_3573delinsCT	NP_001274176.1:p.Ser1191=
NM_001287248.1:c.2840_2841delinsCT	NP_001274177.1:p.Ser947=
XM_006720632.2:c.2003_2004delinsCT	XP_006720695.1:p.Ser668=
XM_011521881.1:c.2651_2652delinsCT	XP_011520183.1:p.Ser884=
XM_011521881.2:c.2651_2652delinsCT	XP_011520183.1:p.Ser884=
NM_000057.4:c.3965_3966delinsCT MANE Select	NP_000048.1:p.Ser1322=
NM_001287246.2:c.3965_3966delinsCT	NP_001274175.1:p.Ser1322=
NM_001287247.2:c.3572_3573delinsCT	NP_001274176.1:p.Ser1191=
NM_001287248.2:c.2840_2841delinsCT	NP_001274177.1:p.Ser947=