Canonical Allele Identifier: CA2570875208

Gene: BLM

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90766914_90766915del , CM000677.2:g.90766914_90766915del	GRCh38
NC_000015.9:g.91310144_91310145del , CM000677.1:g.91310144_91310145del	GRCh37
NC_000015.8:g.89111148_89111149del	NCBI36
NG_007272.1:g.54543_54544del , LRG_20:g.54543_54544del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.2198_2199del MANE Select	ENSP00000347232.3:p.Pro733ArgfsTer7
ENST00000648453.1:c.2198_2199del	ENSP00000497646.1:p.Pro733ArgfsTer7
ENST00000680772.1:c.2198_2199del	ENSP00000506117.1:p.Pro733ArgfsTer7
ENST00000681142.1:c.2198_2199del	ENSP00000506682.1:p.Pro733ArgfsTer7
ENST00000355112.7:c.2198_2199del	ENSP00000347232.3:p.Pro733ArgfsTer7
ENST00000559426.5:n.375_376del
ENST00000559724.5:c.*1122_*1123del	ENSP00000453359.1:n.*1122_*1123del
ENST00000560136.5:n.224_225del
ENST00000560509.5:c.2198_2199del	ENSP00000454158.1:p.Pro733ArgfsTer7
NM_000057.3:c.2198_2199del	NP_000048.1:p.Pro733ArgfsTer7
NM_001287246.1:c.2198_2199del	NP_001274175.1:p.Pro733ArgfsTer7
NM_001287247.1:c.2198_2199del	NP_001274176.1:p.Pro733ArgfsTer7
NM_001287248.1:c.1073_1074del	NP_001274177.1:p.Pro358ArgfsTer7
XM_006720632.2:c.236_237del	XP_006720695.1:p.Pro79ArgfsTer7
XM_011521881.1:c.884_885del	XP_011520183.1:p.Pro295ArgfsTer7
XM_011521882.1:c.2198_2199del	XP_011520184.1:p.Pro733ArgfsTer7
XM_011521881.2:c.884_885del	XP_011520183.1:p.Pro295ArgfsTer7
XM_011521882.3:c.2198_2199del	XP_011520184.1:p.Pro733ArgfsTer7
NM_000057.4:c.2198_2199del MANE Select	NP_000048.1:p.Pro733ArgfsTer7
NM_001287246.2:c.2198_2199del	NP_001274175.1:p.Pro733ArgfsTer7
NM_001287247.2:c.2198_2199del	NP_001274176.1:p.Pro733ArgfsTer7
NM_001287248.2:c.1073_1074del	NP_001274177.1:p.Pro358ArgfsTer7