Canonical Allele Identifier: CA919616435

Gene: BLM

Linked Data

• dbSNP Id: rs1596259658

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90793981_90793986del , CM000677.2:g.90793981_90793986del	GRCh38
NC_000015.9:g.91337211_91337216del , CM000677.1:g.91337211_91337216del	GRCh37
NC_000015.8:g.89138215_89138220del	NCBI36
NG_007272.1:g.81610_81615del , LRG_20:g.81610_81615del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.3020-186_3020-181del MANE Select	ENSP00000347232.3:n.3020-186_3020-181del
ENST00000560559.2:n.1593-186_1593-181del
ENST00000648453.1:c.3020-186_3020-181del	ENSP00000497646.1:n.3020-186_3020-181del
ENST00000680772.1:c.3020-186_3020-181del	ENSP00000506117.1:n.3020-186_3020-181del
ENST00000681142.1:c.3020-186_3020-181del	ENSP00000506682.1:n.3020-186_3020-181del
ENST00000355112.7:c.3020-186_3020-181del	ENSP00000347232.3:n.3020-186_3020-181del
ENST00000558825.5:n.181_186del
ENST00000559724.5:c.*1944-186_*1944-181del	ENSP00000453359.1:n.*1944-186_*1944-181del
ENST00000560136.5:n.1046-186_1046-181del
ENST00000560509.5:c.3020-186_3020-181del	ENSP00000454158.1:n.3020-186_3020-181del
ENST00000560559.1:n.557-186_557-181del
NM_000057.3:c.3020-186_3020-181del	NP_000048.1:n.3020-186_3020-181del
NM_001287246.1:c.3020-186_3020-181del	NP_001274175.1:n.3020-186_3020-181del
NM_001287247.1:c.3020-186_3020-181del	NP_001274176.1:n.3020-186_3020-181del
NM_001287248.1:c.1895-186_1895-181del	NP_001274177.1:n.1895-186_1895-181del
XM_006720632.2:c.1058-186_1058-181del	XP_006720695.1:n.1058-186_1058-181del
XM_011521881.1:c.1706-186_1706-181del	XP_011520183.1:n.1706-186_1706-181del
XM_011521881.2:c.1706-186_1706-181del	XP_011520183.1:n.1706-186_1706-181del
NM_000057.4:c.3020-186_3020-181del MANE Select	NP_000048.1:n.3020-186_3020-181del
NM_001287246.2:c.3020-186_3020-181del	NP_001274175.1:n.3020-186_3020-181del
NM_001287247.2:c.3020-186_3020-181del	NP_001274176.1:n.3020-186_3020-181del
NM_001287248.2:c.1895-186_1895-181del	NP_001274177.1:n.1895-186_1895-181del