Canonical Allele Identifier: CA2195297316

Gene: BLM

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90794259_90794263delinsAGAAT , CM000677.2:g.90794259_90794263delinsAGAAT	GRCh38
NC_000015.9:g.91337489_91337493delinsAGAAT , CM000677.1:g.91337489_91337493delinsAGAAT	GRCh37
NC_000015.8:g.89138493_89138497delinsAGAAT	NCBI36
NG_007272.1:g.81888_81892delinsAGAAT , LRG_20:g.81888_81892delinsAGAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.3112_3116delinsAGAAT MANE Select	ENSP00000347232.3:p.Arg1038=
ENST00000560559.2:n.1685_1689delinsAGAAT
ENST00000648453.1:c.3112_3116delinsAGAAT	ENSP00000497646.1:p.Arg1038=
ENST00000680772.1:c.3112_3116delinsAGAAT	ENSP00000506117.1:p.Arg1038=
ENST00000681142.1:c.3112_3116delinsAGAAT	ENSP00000506682.1:p.Arg1038=
ENST00000355112.7:c.3112_3116delinsAGAAT	ENSP00000347232.3:p.Arg1038=
ENST00000558825.5:n.459_463delinsAGAAT
ENST00000559724.5:c.*2036_*2040delinsAGAAT	ENSP00000453359.1:n.*2036_*2040delinsAGAAT
ENST00000560136.5:n.1138_1142delinsAGAAT
ENST00000560509.5:c.3112_3116delinsAGAAT	ENSP00000454158.1:p.Arg1038=
ENST00000560559.1:n.649_653delinsAGAAT
NM_000057.3:c.3112_3116delinsAGAAT	NP_000048.1:p.Arg1038=
NM_001287246.1:c.3112_3116delinsAGAAT	NP_001274175.1:p.Arg1038=
NM_001287247.1:c.3112_3116delinsAGAAT	NP_001274176.1:p.Arg1038=
NM_001287248.1:c.1987_1991delinsAGAAT	NP_001274177.1:p.Arg663=
XM_006720632.2:c.1150_1154delinsAGAAT	XP_006720695.1:p.Arg384=
XM_011521881.1:c.1798_1802delinsAGAAT	XP_011520183.1:p.Arg600=
XM_011521881.2:c.1798_1802delinsAGAAT	XP_011520183.1:p.Arg600=
NM_000057.4:c.3112_3116delinsAGAAT MANE Select	NP_000048.1:p.Arg1038=
NM_001287246.2:c.3112_3116delinsAGAAT	NP_001274175.1:p.Arg1038=
NM_001287247.2:c.3112_3116delinsAGAAT	NP_001274176.1:p.Arg1038=
NM_001287248.2:c.1987_1991delinsAGAAT	NP_001274177.1:p.Arg663=