Canonical Allele Identifier: CA2731532153

Gene: BLM

Linked Data

• dbSNP Id: rs2151199906

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90811343del , CM000677.2:g.90811343del	GRCh38
NC_000015.9:g.91354573del , CM000677.1:g.91354573del	GRCh37
NC_000015.8:g.89155577del	NCBI36
NG_007272.1:g.98972del , LRG_20:g.98972del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.4013del MANE Select	ENSP00000347232.3:p.Lys1338ArgfsTer?
ENST00000560559.2:n.2586del
ENST00000648453.1:c.4013del	ENSP00000497646.1:p.Lys1338ArgfsTer?
ENST00000680772.1:c.4013del	ENSP00000506117.1:p.Lys1338ArgfsTer?
ENST00000681142.1:c.4013del	ENSP00000506682.1:p.Lys1338ArgfsTer?
ENST00000355112.7:c.4013del	ENSP00000347232.3:p.Lys1338ArgfsTer?
ENST00000558825.5:n.1360del
ENST00000559724.5:c.*2937del	ENSP00000453359.1:n.*2937del
ENST00000560509.5:c.3620del	ENSP00000454158.1:p.Lys1207ArgfsTer?
ENST00000560821.1:n.433del
NM_000057.3:c.4013del	NP_000048.1:p.Lys1338ArgfsTer?
NM_001287246.1:c.4013del	NP_001274175.1:p.Lys1338ArgfsTer?
NM_001287247.1:c.3620del	NP_001274176.1:p.Lys1207ArgfsTer?
NM_001287248.1:c.2888del	NP_001274177.1:p.Lys963ArgfsTer?
XM_006720632.2:c.2051del	XP_006720695.1:p.Lys684ArgfsTer?
XM_011521881.1:c.2699del	XP_011520183.1:p.Lys900ArgfsTer?
XM_011521881.2:c.2699del	XP_011520183.1:p.Lys900ArgfsTer?
NM_000057.4:c.4013del MANE Select	NP_000048.1:p.Lys1338ArgfsTer?
NM_001287246.2:c.4013del	NP_001274175.1:p.Lys1338ArgfsTer?
NM_001287247.2:c.3620del	NP_001274176.1:p.Lys1207ArgfsTer?
NM_001287248.2:c.2888del	NP_001274177.1:p.Lys963ArgfsTer?