Canonical Allele Identifier: CA2547826502

Gene: BLM

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90766916_90766917insAATTTTCGAAAAATTTTAAAAAATT , CM000677.2:g.90766916_90766917insAATTTTCGAAAAATTTTAAAAAATT	GRCh38
NC_000015.9:g.91310146_91310147insAATTTTCGAAAAATTTTAAAAAATT , CM000677.1:g.91310146_91310147insAATTTTCGAAAAATTTTAAAAAATT	GRCh37
NC_000015.8:g.89111150_89111151insAATTTTCGAAAAATTTTAAAAAATT	NCBI36
NG_007272.1:g.54545_54546insAATTTTCGAAAAATTTTAAAAAATT , LRG_20:g.54545_54546insAATTTTCGAAAAATTTTAAAAAATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.2200_2201insAATTTTCGAAAAATTTTAAAAAATT MANE Select	ENSP00000347232.3:p.Ala734GlufsTer15
ENST00000648453.1:c.2200_2201insAATTTTCGAAAAATTTTAAAAAATT	ENSP00000497646.1:p.Ala734GlufsTer15
ENST00000680772.1:c.2200_2201insAATTTTCGAAAAATTTTAAAAAATT	ENSP00000506117.1:p.Ala734GlufsTer15
ENST00000681142.1:c.2200_2201insAATTTTCGAAAAATTTTAAAAAATT	ENSP00000506682.1:p.Ala734GlufsTer15
ENST00000355112.7:c.2200_2201insAATTTTCGAAAAATTTTAAAAAATT	ENSP00000347232.3:p.Ala734GlufsTer15
ENST00000559426.5:n.377_378insAATTTTCGAAAAATTTTAAAAAATT
ENST00000559724.5:c.*1124_*1125insAATTTTCGAAAAATTTTAAAAAATT	ENSP00000453359.1:n.*1124_*1125insAATTTTCGAAAAATTTTAAAAAATT
ENST00000560136.5:n.226_227insAATTTTCGAAAAATTTTAAAAAATT
ENST00000560509.5:c.2200_2201insAATTTTCGAAAAATTTTAAAAAATT	ENSP00000454158.1:p.Ala734GlufsTer15
NM_000057.3:c.2200_2201insAATTTTCGAAAAATTTTAAAAAATT	NP_000048.1:p.Ala734GlufsTer15
NM_001287246.1:c.2200_2201insAATTTTCGAAAAATTTTAAAAAATT	NP_001274175.1:p.Ala734GlufsTer15
NM_001287247.1:c.2200_2201insAATTTTCGAAAAATTTTAAAAAATT	NP_001274176.1:p.Ala734GlufsTer15
NM_001287248.1:c.1075_1076insAATTTTCGAAAAATTTTAAAAAATT	NP_001274177.1:p.Ala359GlufsTer15
XM_006720632.2:c.238_239insAATTTTCGAAAAATTTTAAAAAATT	XP_006720695.1:p.Ala80GlufsTer15
XM_011521881.1:c.886_887insAATTTTCGAAAAATTTTAAAAAATT	XP_011520183.1:p.Ala296GlufsTer15
XM_011521882.1:c.2200_2201insAATTTTCGAAAAATTTTAAAAAATT	XP_011520184.1:p.Ala734GlufsTer15
XM_011521881.2:c.886_887insAATTTTCGAAAAATTTTAAAAAATT	XP_011520183.1:p.Ala296GlufsTer15
XM_011521882.3:c.2200_2201insAATTTTCGAAAAATTTTAAAAAATT	XP_011520184.1:p.Ala734GlufsTer15
NM_000057.4:c.2200_2201insAATTTTCGAAAAATTTTAAAAAATT MANE Select	NP_000048.1:p.Ala734GlufsTer15
NM_001287246.2:c.2200_2201insAATTTTCGAAAAATTTTAAAAAATT	NP_001274175.1:p.Ala734GlufsTer15
NM_001287247.2:c.2200_2201insAATTTTCGAAAAATTTTAAAAAATT	NP_001274176.1:p.Ala734GlufsTer15
NM_001287248.2:c.1075_1076insAATTTTCGAAAAATTTTAAAAAATT	NP_001274177.1:p.Ala359GlufsTer15