Canonical Allele Identifier: CA2195293189

Gene: BLM

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90803721G= , CM000677.2:g.90803721G=	GRCh38
NC_000015.9:g.91346951G= , CM000677.1:g.91346951G=	GRCh37
NC_000015.8:g.89147955G=	NCBI36
NG_007272.1:g.91350G= , LRG_20:g.91350G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000057.4:c.3558+1G= MANE Select	NP_000048.1:n.3558+1G=
ENST00000355112.8:c.3558+1G= MANE Select	ENSP00000347232.3:n.3558+1G=
NM_000057.3:c.3558+1G=	NP_000048.1:n.3558+1G=
NM_001287246.1:c.3558+1G=	NP_001274175.1:n.3558+1G=
NM_001287246.2:c.3558+1G=	NP_001274175.1:n.3558+1G=
NM_001287247.1:c.3358+5384G=	NP_001274176.1:n.3358+5384G=
NM_001287247.2:c.3358+5384G=	NP_001274176.1:n.3358+5384G=
NM_001287248.1:c.2433+1G=	NP_001274177.1:n.2433+1G=
NM_001287248.2:c.2433+1G=	NP_001274177.1:n.2433+1G=
ENST00000355112.7:c.3558+1G=	ENSP00000347232.3:n.3558+1G=
ENST00000558825.5:n.905+1G=
ENST00000559724.5:c.*2482+1G=	ENSP00000453359.1:n.*2482+1G=
ENST00000560136.5:n.1584+1G=
ENST00000560509.5:c.3358+5384G=	ENSP00000454158.1:n.3358+5384G=
ENST00000560559.2:n.2131+1G=
ENST00000648453.1:c.3558+1G=	ENSP00000497646.1:n.3558+1G=
ENST00000680772.1:c.3558+1G=	ENSP00000506117.1:n.3558+1G=
ENST00000681142.1:c.3558+1G=	ENSP00000506682.1:n.3558+1G=
XM_006720632.2:c.1596+1G=	XP_006720695.1:n.1596+1G=
XM_011521881.1:c.2244+1G=	XP_011520183.1:n.2244+1G=
XM_011521881.2:c.2244+1G=	XP_011520183.1:n.2244+1G=