Allele Registry

Canonical Allele Identifier: CA344535

Gene: BLM HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr15:g.90804195del

GRCh37 chr15:g.91347425del

Linked Data - NCBI & NCI

ClinVar RCV:

RCV002249299

ClinVar Variation:

1685572

dbSNP:

367543018

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90804195del , CM000677.2:g.90804195del	GRCh38
NC_000015.9:g.91347425del , CM000677.1:g.91347425del	GRCh37
NC_000015.8:g.89148429del	NCBI36
NG_007272.1:g.91824del , LRG_20:g.91824del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.3587del MANE Select	ENSP00000347232.3:p.Ser1196ThrfsTer3
ENST00000560559.2:n.2160del
ENST00000648453.1:c.3587del	ENSP00000497646.1:p.Ser1196ThrfsTer3
ENST00000680772.1:c.3587del	ENSP00000506117.1:p.Ser1196ThrfsTer3
ENST00000681142.1:c.3587del	ENSP00000506682.1:p.Ser1196ThrfsTer3
ENST00000355112.7:c.3587del	ENSP00000347232.3:p.Ser1196ThrfsTer3
ENST00000558825.5:n.934del
ENST00000559724.5:c.*2511del	ENSP00000453359.1:n.*2511del
ENST00000560136.5:n.1613del
ENST00000560509.5:c.3359-4942del	ENSP00000454158.1:n.3359-4942del
NM_000057.3:c.3587del	NP_000048.1:p.Ser1196ThrfsTer3
NM_001287246.1:c.3587del	NP_001274175.1:p.Ser1196ThrfsTer3
NM_001287247.1:c.3359-4942del	NP_001274176.1:n.3359-4942del
NM_001287248.1:c.2462del	NP_001274177.1:p.Ser821ThrfsTer3
XM_006720632.2:c.1625del	XP_006720695.1:p.Ser542ThrfsTer3
XM_011521881.1:c.2273del	XP_011520183.1:p.Ser758ThrfsTer3
XM_011521881.2:c.2273del	XP_011520183.1:p.Ser758ThrfsTer3
NM_000057.4:c.3587del MANE Select	NP_000048.1:p.Ser1196ThrfsTer3
NM_001287246.2:c.3587del	NP_001274175.1:p.Ser1196ThrfsTer3
NM_001287247.2:c.3359-4942del	NP_001274176.1:n.3359-4942del
NM_001287248.2:c.2462del	NP_001274177.1:p.Ser821ThrfsTer3

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