Canonical Allele Identifier: CA274728978

Gene: BLM

Linked Data

• dbSNP Id: rs200699323
• MyVariant Identifiers: chr15:g.91354608_91354609insCT (hg19) ; chr15:g.90811378_90811379insCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90811379_90811380dup , CM000677.2:g.90811379_90811380dup	GRCh38
NC_000015.9:g.91354609_91354610dup , CM000677.1:g.91354609_91354610dup	GRCh37
NC_000015.8:g.89155613_89155614dup	NCBI36
NG_007272.1:g.99008_99009dup , LRG_20:g.99008_99009dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.4049_4050dup MANE Select	ENSP00000347232.3:p.Ala1351LeufsTer?
ENST00000560559.2:n.2622_2623dup
ENST00000648453.1:c.4049_4050dup	ENSP00000497646.1:p.Ala1351LeufsTer?
ENST00000680772.1:c.4049_4050dup	ENSP00000506117.1:p.Ala1351LeufsTer?
ENST00000681142.1:c.4049_4050dup	ENSP00000506682.1:p.Ala1351LeufsTer27
ENST00000355112.7:c.4049_4050dup	ENSP00000347232.3:p.Ala1351LeufsTer?
ENST00000558825.5:n.1396_1397dup
ENST00000559724.5:c.*2973_*2974dup	ENSP00000453359.1:n.*2973_*2974dup
ENST00000560509.5:c.3656_3657dup	ENSP00000454158.1:p.Ala1220LeufsTer?
ENST00000560821.1:n.469_470dup
NM_000057.3:c.4049_4050dup	NP_000048.1:p.Ala1351LeufsTer?
NM_001287246.1:c.4049_4050dup	NP_001274175.1:p.Ala1351LeufsTer?
NM_001287247.1:c.3656_3657dup	NP_001274176.1:p.Ala1220LeufsTer?
NM_001287248.1:c.2924_2925dup	NP_001274177.1:p.Ala976LeufsTer?
XM_006720632.2:c.2087_2088dup	XP_006720695.1:p.Ala697LeufsTer?
XM_011521881.1:c.2735_2736dup	XP_011520183.1:p.Ala913LeufsTer?
XM_011521881.2:c.2735_2736dup	XP_011520183.1:p.Ala913LeufsTer?
NM_000057.4:c.4049_4050dup MANE Select	NP_000048.1:p.Ala1351LeufsTer?
NM_001287246.2:c.4049_4050dup	NP_001274175.1:p.Ala1351LeufsTer?
NM_001287247.2:c.3656_3657dup	NP_001274176.1:p.Ala1220LeufsTer?
NM_001287248.2:c.2924_2925dup	NP_001274177.1:p.Ala976LeufsTer?