Canonical Allele Identifier: CA2739290684

Gene: BLM

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90811378_90811380dup , CM000677.2:g.90811378_90811380dup	GRCh38
NC_000015.9:g.91354608_91354610dup , CM000677.1:g.91354608_91354610dup	GRCh37
NC_000015.8:g.89155612_89155614dup	NCBI36
NG_007272.1:g.99007_99009dup , LRG_20:g.99007_99009dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.4048_4050dup MANE Select	ENSP00000347232.3:p.Thr1350_Ala1351insThr
ENST00000560559.2:n.2621_2623dup
ENST00000648453.1:c.4048_4050dup	ENSP00000497646.1:p.Thr1350_Ala1351insThr
ENST00000680772.1:c.4048_4050dup	ENSP00000506117.1:p.Thr1350_Ala1351insThr
ENST00000681142.1:c.4048_4050dup	ENSP00000506682.1:p.Thr1350_Ala1351insThr
ENST00000355112.7:c.4048_4050dup	ENSP00000347232.3:p.Thr1350_Ala1351insThr
ENST00000558825.5:n.1395_1397dup
ENST00000559724.5:c.*2972_*2974dup	ENSP00000453359.1:n.*2972_*2974dup
ENST00000560509.5:c.3655_3657dup	ENSP00000454158.1:p.Thr1219_Ala1220insThr
ENST00000560821.1:n.468_470dup
NM_000057.3:c.4048_4050dup	NP_000048.1:p.Thr1350_Ala1351insThr
NM_001287246.1:c.4048_4050dup	NP_001274175.1:p.Thr1350_Ala1351insThr
NM_001287247.1:c.3655_3657dup	NP_001274176.1:p.Thr1219_Ala1220insThr
NM_001287248.1:c.2923_2925dup	NP_001274177.1:p.Thr975_Ala976insThr
XM_006720632.2:c.2086_2088dup	XP_006720695.1:p.Thr696_Ala697insThr
XM_011521881.1:c.2734_2736dup	XP_011520183.1:p.Thr912_Ala913insThr
XM_011521881.2:c.2734_2736dup	XP_011520183.1:p.Thr912_Ala913insThr
NM_000057.4:c.4048_4050dup MANE Select	NP_000048.1:p.Thr1350_Ala1351insThr
NM_001287246.2:c.4048_4050dup	NP_001274175.1:p.Thr1350_Ala1351insThr
NM_001287247.2:c.3655_3657dup	NP_001274176.1:p.Thr1219_Ala1220insThr
NM_001287248.2:c.2923_2925dup	NP_001274177.1:p.Thr975_Ala976insThr