Canonical Allele Identifier: CA344654

Gene: BLM

Linked Data

• ClinVar Variation Id: 42178
• ClinVar RCV Id: RCV000035005 ; RCV002426544
• dbSNP Id: rs367543019
• ExAC: 15:91312748 T / TA
• gnomAD v2: 15-91312748-T-TA
• gnomAD v3: 15-90769518-T-TA
• gnomAD v4: 15-90769518-T-TA
• MyVariant Identifiers: chr15:g.91312749dupA (hg19) ; chr15:g.91312748_91312749insA (hg19) ; chr15:g.90769519dupA (hg38) ; chr15:g.90769518_90769519insA (hg38)
• PubMed: PMID:17407155 ; PMID:20301572 ; PMID:26247052

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90769519dup , CM000677.2:g.90769519dup	GRCh38
NC_000015.9:g.91312749dup , CM000677.1:g.91312749dup	GRCh37
NC_000015.8:g.89113753dup	NCBI36
NG_007272.1:g.57148dup , LRG_20:g.57148dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.2488dup MANE Select	ENSP00000347232.3:p.Thr830AsnfsTer5
ENST00000648453.1:c.2488dup	ENSP00000497646.1:p.Thr830AsnfsTer5
ENST00000680772.1:c.2488dup	ENSP00000506117.1:p.Thr830AsnfsTer5
ENST00000681142.1:c.2488dup	ENSP00000506682.1:p.Thr830AsnfsTer5
ENST00000355112.7:c.2488dup	ENSP00000347232.3:p.Thr830AsnfsTer5
ENST00000559724.5:c.*1412dup	ENSP00000453359.1:n.*1412dup
ENST00000560136.5:n.514dup
ENST00000560509.5:c.2488dup	ENSP00000454158.1:p.Thr830AsnfsTer5
NM_000057.3:c.2488dup	NP_000048.1:p.Thr830AsnfsTer5
NM_001287246.1:c.2488dup	NP_001274175.1:p.Thr830AsnfsTer5
NM_001287247.1:c.2488dup	NP_001274176.1:p.Thr830AsnfsTer5
NM_001287248.1:c.1363dup	NP_001274177.1:p.Thr455AsnfsTer5
XM_006720632.2:c.526dup	XP_006720695.1:p.Thr176AsnfsTer5
XM_011521881.1:c.1174dup	XP_011520183.1:p.Thr392AsnfsTer5
XM_011521882.1:c.2488dup	XP_011520184.1:p.Thr830AsnfsTer5
XM_011521881.2:c.1174dup	XP_011520183.1:p.Thr392AsnfsTer5
XM_011521882.3:c.2488dup	XP_011520184.1:p.Thr830AsnfsTer5
NM_000057.4:c.2488dup MANE Select	NP_000048.1:p.Thr830AsnfsTer5
NM_001287246.2:c.2488dup	NP_001274175.1:p.Thr830AsnfsTer5
NM_001287247.2:c.2488dup	NP_001274176.1:p.Thr830AsnfsTer5
NM_001287248.2:c.1363dup	NP_001274177.1:p.Thr455AsnfsTer5