Canonical Allele Identifier: CA2195295802

Gene: BLM

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90790789_90790790delinsCT , CM000677.2:g.90790789_90790790delinsCT	GRCh38
NC_000015.9:g.91334019_91334020delinsCT , CM000677.1:g.91334019_91334020delinsCT	GRCh37
NC_000015.8:g.89135023_89135024delinsCT	NCBI36
NG_007272.1:g.78418_78419delinsCT , LRG_20:g.78418_78419delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.2964_2965delinsCT MANE Select	ENSP00000347232.3:p.His988=
ENST00000560559.2:n.1537_1538delinsCT
ENST00000648453.1:c.2964_2965delinsCT	ENSP00000497646.1:p.His988=
ENST00000680772.1:c.2964_2965delinsCT	ENSP00000506117.1:p.His988=
ENST00000681142.1:c.2964_2965delinsCT	ENSP00000506682.1:p.His988=
ENST00000355112.7:c.2964_2965delinsCT	ENSP00000347232.3:p.His988=
ENST00000559724.5:c.*1888_*1889delinsCT	ENSP00000453359.1:n.*1888_*1889delinsCT
ENST00000560136.5:n.990_991delinsCT
ENST00000560509.5:c.2964_2965delinsCT	ENSP00000454158.1:p.His988=
ENST00000560559.1:n.501_502delinsCT
NM_000057.3:c.2964_2965delinsCT	NP_000048.1:p.His988=
NM_001287246.1:c.2964_2965delinsCT	NP_001274175.1:p.His988=
NM_001287247.1:c.2964_2965delinsCT	NP_001274176.1:p.His988=
NM_001287248.1:c.1839_1840delinsCT	NP_001274177.1:p.His613=
XM_006720632.2:c.1002_1003delinsCT	XP_006720695.1:p.His334=
XM_011521881.1:c.1650_1651delinsCT	XP_011520183.1:p.His550=
XM_011521881.2:c.1650_1651delinsCT	XP_011520183.1:p.His550=
NM_000057.4:c.2964_2965delinsCT MANE Select	NP_000048.1:p.His988=
NM_001287246.2:c.2964_2965delinsCT	NP_001274175.1:p.His988=
NM_001287247.2:c.2964_2965delinsCT	NP_001274176.1:p.His988=
NM_001287248.2:c.1839_1840delinsCT	NP_001274177.1:p.His613=