Allele Registry

Canonical Allele Identifier: CA16041767

Gene: BLM HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr15:g.90754854_90754857dupCTTA

GRCh37 chr15:g.91298084_91298087dupCTTA

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000410940

ClinVar Variation:

371550

dbSNP:

1057517359

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90754854_90754857dup , CM000677.2:g.90754854_90754857dup	GRCh38
NC_000015.9:g.91298084_91298087dup , CM000677.1:g.91298084_91298087dup	GRCh37
NC_000015.8:g.89099088_89099091dup	NCBI36
NG_007272.1:g.42483_42486dup , LRG_20:g.42483_42486dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.1003_1006dup MANE Select	ENSP00000347232.3:p.Ser336ThrfsTer2
ENST00000648453.1:c.1003_1006dup	ENSP00000497646.1:p.Ser336ThrfsTer2
ENST00000680772.1:c.1003_1006dup	ENSP00000506117.1:p.Ser336ThrfsTer2
ENST00000681142.1:c.1003_1006dup	ENSP00000506682.1:p.Ser336ThrfsTer2
ENST00000355112.7:c.1003_1006dup	ENSP00000347232.3:p.Ser336ThrfsTer2
ENST00000558599.1:n.264_267dup
ENST00000559724.5:c.1003_1006dup	ENSP00000453359.1:p.Ser336ThrfsTer2
ENST00000560509.5:c.1003_1006dup	ENSP00000454158.1:p.Ser336ThrfsTer2
NM_000057.3:c.1003_1006dup	NP_000048.1:p.Ser336ThrfsTer2
NM_001287246.1:c.1003_1006dup	NP_001274175.1:p.Ser336ThrfsTer2
NM_001287247.1:c.1003_1006dup	NP_001274176.1:p.Ser336ThrfsTer2
NM_001287248.1:c.-289_-286dup	NP_001274177.1:n.-289_-286dup
XM_011521881.1:c.-179_-176dup	XP_011520183.1:n.-179_-176dup
XM_011521882.1:c.1003_1006dup	XP_011520184.1:p.Ser336ThrfsTer2
XM_011521881.2:c.-179_-176dup	XP_011520183.1:n.-179_-176dup
XM_011521882.3:c.1003_1006dup	XP_011520184.1:p.Ser336ThrfsTer2
NM_000057.4:c.1003_1006dup MANE Select	NP_000048.1:p.Ser336ThrfsTer2
NM_001287246.2:c.1003_1006dup	NP_001274175.1:p.Ser336ThrfsTer2
NM_001287247.2:c.1003_1006dup	NP_001274176.1:p.Ser336ThrfsTer2
NM_001287248.2:c.-289_-286dup	NP_001274177.1:n.-289_-286dup

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