Canonical Allele Identifier: CA2499223152

Gene: BLM

Linked Data

• dbSNP Id: rs2151163808

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90766926_90766928del , CM000677.2:g.90766926_90766928del	GRCh38
NC_000015.9:g.91310156_91310158del , CM000677.1:g.91310156_91310158del	GRCh37
NC_000015.8:g.89111160_89111162del	NCBI36
NG_007272.1:g.54555_54557del , LRG_20:g.54555_54557del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.2210_2212del MANE Select	ENSP00000347232.3:p.Leu737_Thr738delinsPro
ENST00000648453.1:c.2210_2212del	ENSP00000497646.1:p.Leu737_Thr738delinsPro
ENST00000680772.1:c.2210_2212del	ENSP00000506117.1:p.Leu737_Thr738delinsPro
ENST00000681142.1:c.2210_2212del	ENSP00000506682.1:p.Leu737_Thr738delinsPro
ENST00000355112.7:c.2210_2212del	ENSP00000347232.3:p.Leu737_Thr738delinsPro
ENST00000559426.5:n.387_389del
ENST00000559724.5:c.*1134_*1136del	ENSP00000453359.1:n.*1134_*1136del
ENST00000560136.5:n.236_238del
ENST00000560509.5:c.2210_2212del	ENSP00000454158.1:p.Leu737_Thr738delinsPro
NM_000057.3:c.2210_2212del	NP_000048.1:p.Leu737_Thr738delinsPro
NM_001287246.1:c.2210_2212del	NP_001274175.1:p.Leu737_Thr738delinsPro
NM_001287247.1:c.2210_2212del	NP_001274176.1:p.Leu737_Thr738delinsPro
NM_001287248.1:c.1085_1087del	NP_001274177.1:p.Leu362_Thr363delinsPro
XM_006720632.2:c.248_250del	XP_006720695.1:p.Leu83_Thr84delinsPro
XM_011521881.1:c.896_898del	XP_011520183.1:p.Leu299_Thr300delinsPro
XM_011521882.1:c.2210_2212del	XP_011520184.1:p.Leu737_Thr738delinsPro
XM_011521881.2:c.896_898del	XP_011520183.1:p.Leu299_Thr300delinsPro
XM_011521882.3:c.2210_2212del	XP_011520184.1:p.Leu737_Thr738delinsPro
NM_000057.4:c.2210_2212del MANE Select	NP_000048.1:p.Leu737_Thr738delinsPro
NM_001287246.2:c.2210_2212del	NP_001274175.1:p.Leu737_Thr738delinsPro
NM_001287247.2:c.2210_2212del	NP_001274176.1:p.Leu737_Thr738delinsPro
NM_001287248.2:c.1085_1087del	NP_001274177.1:p.Leu362_Thr363delinsPro