Canonical Allele Identifier: CA2697549387

Gene: BLM

Linked Data

• ClinVar Variation Id: 2710225
• ClinVar RCV Id: RCV003505957

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90790782del , CM000677.2:g.90790782del	GRCh38
NC_000015.9:g.91334012del , CM000677.1:g.91334012del	GRCh37
NC_000015.8:g.89135016del	NCBI36
NG_007272.1:g.78411del , LRG_20:g.78411del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.2957del MANE Select	ENSP00000347232.3:p.Ile986AsnfsTer13
ENST00000560559.2:n.1530del
ENST00000648453.1:c.2957del	ENSP00000497646.1:p.Ile986AsnfsTer13
ENST00000680772.1:c.2957del	ENSP00000506117.1:p.Ile986AsnfsTer13
ENST00000681142.1:c.2957del	ENSP00000506682.1:p.Ile986AsnfsTer13
ENST00000355112.7:c.2957del	ENSP00000347232.3:p.Ile986AsnfsTer13
ENST00000559724.5:c.*1881del	ENSP00000453359.1:n.*1881del
ENST00000560136.5:n.983del
ENST00000560509.5:c.2957del	ENSP00000454158.1:p.Ile986AsnfsTer13
ENST00000560559.1:n.494del
NM_000057.3:c.2957del	NP_000048.1:p.Ile986AsnfsTer13
NM_001287246.1:c.2957del	NP_001274175.1:p.Ile986AsnfsTer13
NM_001287247.1:c.2957del	NP_001274176.1:p.Ile986AsnfsTer13
NM_001287248.1:c.1832del	NP_001274177.1:p.Ile611AsnfsTer13
XM_006720632.2:c.995del	XP_006720695.1:p.Ile332AsnfsTer13
XM_011521881.1:c.1643del	XP_011520183.1:p.Ile548AsnfsTer13
XM_011521881.2:c.1643del	XP_011520183.1:p.Ile548AsnfsTer13
NM_000057.4:c.2957del MANE Select	NP_000048.1:p.Ile986AsnfsTer13
NM_001287246.2:c.2957del	NP_001274175.1:p.Ile986AsnfsTer13
NM_001287247.2:c.2957del	NP_001274176.1:p.Ile986AsnfsTer13
NM_001287248.2:c.1832del	NP_001274177.1:p.Ile611AsnfsTer13