Canonical Allele Identifier: CA2573151458

Gene: BLM

Linked Data

• ClinVar Variation Id: 1393180
• ClinVar RCV Id: RCV001898186
• dbSNP Id: rs2151194224

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90803568_90803569delinsTT , CM000677.2:g.90803568_90803569delinsTT	GRCh38
NC_000015.9:g.91346798_91346799delinsTT , CM000677.1:g.91346798_91346799delinsTT	GRCh37
NC_000015.8:g.89147802_89147803delinsTT	NCBI36
NG_007272.1:g.91197_91198delinsTT , LRG_20:g.91197_91198delinsTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000355112.8:c.3406_3407delinsTT MANE Select	ENSP00000347232.3:p.Ala1136Phe
ENST00000560559.2:n.1979_1980delinsTT
ENST00000648453.1:c.3406_3407delinsTT	ENSP00000497646.1:p.Ala1136Phe
ENST00000680772.1:c.3406_3407delinsTT	ENSP00000506117.1:p.Ala1136Phe
ENST00000681142.1:c.3406_3407delinsTT	ENSP00000506682.1:p.Ala1136Phe
ENST00000355112.7:c.3406_3407delinsTT	ENSP00000347232.3:p.Ala1136Phe
ENST00000558825.5:n.753_754delinsTT
ENST00000559724.5:c.*2330_*2331delinsTT	ENSP00000453359.1:n.*2330_*2331delinsTT
ENST00000560136.5:n.1432_1433delinsTT
ENST00000560509.5:c.3358+5231_3358+5232delinsTT	ENSP00000454158.1:n.3358+5231_3358+5232de...
NM_000057.3:c.3406_3407delinsTT	NP_000048.1:p.Ala1136Phe
NM_001287246.1:c.3406_3407delinsTT	NP_001274175.1:p.Ala1136Phe
NM_001287247.1:c.3358+5231_3358+5232delinsTT	NP_001274176.1:n.3358+5231_3358+5232delin...
NM_001287248.1:c.2281_2282delinsTT	NP_001274177.1:p.Ala761Phe
XM_006720632.2:c.1444_1445delinsTT	XP_006720695.1:p.Ala482Phe
XM_011521881.1:c.2092_2093delinsTT	XP_011520183.1:p.Ala698Phe
XM_011521881.2:c.2092_2093delinsTT	XP_011520183.1:p.Ala698Phe
NM_000057.4:c.3406_3407delinsTT MANE Select	NP_000048.1:p.Ala1136Phe
NM_001287246.2:c.3406_3407delinsTT	NP_001274175.1:p.Ala1136Phe
NM_001287247.2:c.3358+5231_3358+5232delinsTT	NP_001274176.1:n.3358+5231_3358+5232delin...
NM_001287248.2:c.2281_2282delinsTT	NP_001274177.1:p.Ala761Phe