Canonical Allele Identifier: CA274319

Gene: BLM

Linked Data

• ClinVar Variation Id: 189048
• ClinVar RCV Id: RCV000169440 ; RCV000574982 ; RCV001818407
• dbSNP Id: rs780379121
• ExAC: 15:91337404 AG / A
• gnomAD v2: 15-91337404-AG-A
• gnomAD v3: 15-90794174-AG-A
• gnomAD v4: 15-90794174-AG-A
• MyVariant Identifiers: chr15:g.91337405del (hg19) ; chr15:g.90794175del (hg38)
• PubMed: PMID:17407155 ; PMID:26247052

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90794175del , CM000677.2:g.90794175del	GRCh38
NC_000015.9:g.91337405del , CM000677.1:g.91337405del	GRCh37
NC_000015.8:g.89138409del	NCBI36
NG_007272.1:g.81804del , LRG_20:g.81804del

Transcript Alleles

HGVS	Amino-acid change
ENST00000355112.8:c.3028del MANE Select	ENSP00000347232.3:p.Asp1010MetfsTer24
ENST00000560559.2:n.1601del
ENST00000648453.1:c.3028del	ENSP00000497646.1:p.Asp1010MetfsTer24
ENST00000680772.1:c.3028del	ENSP00000506117.1:p.Asp1010MetfsTer24
ENST00000681142.1:c.3028del	ENSP00000506682.1:p.Asp1010MetfsTer24
ENST00000355112.7:c.3028del	ENSP00000347232.3:p.Asp1010MetfsTer24
ENST00000558825.5:n.375del
ENST00000559724.5:c.*1952del	ENSP00000453359.1:n.*1952del
ENST00000560136.5:n.1054del
ENST00000560509.5:c.3028del	ENSP00000454158.1:p.Asp1010MetfsTer24
ENST00000560559.1:n.565del
NM_000057.3:c.3028del	NP_000048.1:p.Asp1010MetfsTer24
NM_001287246.1:c.3028del	NP_001274175.1:p.Asp1010MetfsTer24
NM_001287247.1:c.3028del	NP_001274176.1:p.Asp1010MetfsTer24
NM_001287248.1:c.1903del	NP_001274177.1:p.Asp635MetfsTer24
XM_006720632.2:c.1066del	XP_006720695.1:p.Asp356MetfsTer24
XM_011521881.1:c.1714del	XP_011520183.1:p.Asp572MetfsTer24
XM_011521881.2:c.1714del	XP_011520183.1:p.Asp572MetfsTer24
NM_000057.4:c.3028del MANE Select	NP_000048.1:p.Asp1010MetfsTer24
NM_001287246.2:c.3028del	NP_001274175.1:p.Asp1010MetfsTer24
NM_001287247.2:c.3028del	NP_001274176.1:p.Asp1010MetfsTer24
NM_001287248.2:c.1903del	NP_001274177.1:p.Asp635MetfsTer24