Canonical Allele Identifier: CA2195295745

Gene: BLM

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90790672_90790679delinsTGGAATGG , CM000677.2:g.90790672_90790679delinsTGGAATGG	GRCh38
NC_000015.9:g.91333902_91333909delinsTGGAATGG , CM000677.1:g.91333902_91333909delinsTGGAATGG	GRCh37
NC_000015.8:g.89134906_89134913delinsTGGAATGG	NCBI36
NG_007272.1:g.78301_78308delinsTGGAATGG , LRG_20:g.78301_78308delinsTGGAATGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.2847_2854delinsTGGAATGG MANE Select	ENSP00000347232.3:p.Phe949=
ENST00000560559.2:n.1420_1427delinsTGGAATGG
ENST00000648453.1:c.2847_2854delinsTGGAATGG	ENSP00000497646.1:p.Phe949=
ENST00000680772.1:c.2847_2854delinsTGGAATGG	ENSP00000506117.1:p.Phe949=
ENST00000681142.1:c.2847_2854delinsTGGAATGG	ENSP00000506682.1:p.Phe949=
ENST00000355112.7:c.2847_2854delinsTGGAATGG	ENSP00000347232.3:p.Phe949=
ENST00000559724.5:c.*1771_*1778delinsTGGAATGG	ENSP00000453359.1:n.*1771_*1778delinsTGGAATGG
ENST00000560136.5:n.873_880delinsTGGAATGG
ENST00000560509.5:c.2847_2854delinsTGGAATGG	ENSP00000454158.1:p.Phe949=
ENST00000560559.1:n.384_391delinsTGGAATGG
NM_000057.3:c.2847_2854delinsTGGAATGG	NP_000048.1:p.Phe949=
NM_001287246.1:c.2847_2854delinsTGGAATGG	NP_001274175.1:p.Phe949=
NM_001287247.1:c.2847_2854delinsTGGAATGG	NP_001274176.1:p.Phe949=
NM_001287248.1:c.1722_1729delinsTGGAATGG	NP_001274177.1:p.Phe574=
XM_006720632.2:c.885_892delinsTGGAATGG	XP_006720695.1:p.Phe295=
XM_011521881.1:c.1533_1540delinsTGGAATGG	XP_011520183.1:p.Phe511=
XM_011521881.2:c.1533_1540delinsTGGAATGG	XP_011520183.1:p.Phe511=
NM_000057.4:c.2847_2854delinsTGGAATGG MANE Select	NP_000048.1:p.Phe949=
NM_001287246.2:c.2847_2854delinsTGGAATGG	NP_001274175.1:p.Phe949=
NM_001287247.2:c.2847_2854delinsTGGAATGG	NP_001274176.1:p.Phe949=
NM_001287248.2:c.1722_1729delinsTGGAATGG	NP_001274177.1:p.Phe574=