Canonical Allele Identifier: CA2195302403

Gene: BLM

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90811372_90811373delinsAG , CM000677.2:g.90811372_90811373delinsAG	GRCh38
NC_000015.9:g.91354602_91354603delinsAG , CM000677.1:g.91354602_91354603delinsAG	GRCh37
NC_000015.8:g.89155606_89155607delinsAG	NCBI36
NG_007272.1:g.99001_99002delinsAG , LRG_20:g.99001_99002delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.4042_4043delinsAG MANE Select	ENSP00000347232.3:p.Arg1348=
ENST00000560559.2:n.2615_2616delinsAG
ENST00000648453.1:c.4042_4043delinsAG	ENSP00000497646.1:p.Arg1348=
ENST00000680772.1:c.4042_4043delinsAG	ENSP00000506117.1:p.Arg1348=
ENST00000681142.1:c.4042_4043delinsAG	ENSP00000506682.1:p.Arg1348=
ENST00000355112.7:c.4042_4043delinsAG	ENSP00000347232.3:p.Arg1348=
ENST00000558825.5:n.1389_1390delinsAG
ENST00000559724.5:c.*2966_*2967delinsAG	ENSP00000453359.1:n.*2966_*2967delinsAG
ENST00000560509.5:c.3649_3650delinsAG	ENSP00000454158.1:p.Arg1217=
ENST00000560821.1:n.462_463delinsAG
NM_000057.3:c.4042_4043delinsAG	NP_000048.1:p.Arg1348=
NM_001287246.1:c.4042_4043delinsAG	NP_001274175.1:p.Arg1348=
NM_001287247.1:c.3649_3650delinsAG	NP_001274176.1:p.Arg1217=
NM_001287248.1:c.2917_2918delinsAG	NP_001274177.1:p.Arg973=
XM_006720632.2:c.2080_2081delinsAG	XP_006720695.1:p.Arg694=
XM_011521881.1:c.2728_2729delinsAG	XP_011520183.1:p.Arg910=
XM_011521881.2:c.2728_2729delinsAG	XP_011520183.1:p.Arg910=
NM_000057.4:c.4042_4043delinsAG MANE Select	NP_000048.1:p.Arg1348=
NM_001287246.2:c.4042_4043delinsAG	NP_001274175.1:p.Arg1348=
NM_001287247.2:c.3649_3650delinsAG	NP_001274176.1:p.Arg1217=
NM_001287248.2:c.2917_2918delinsAG	NP_001274177.1:p.Arg973=