Canonical Allele Identifier: CA7738401

Gene: BLM

Linked Data

• ClinVar Variation Id: 1660340
• ClinVar RCV Id: RCV002183667
• dbSNP Id: rs758366991
• ExAC: 15:91298024 A / AT
• gnomAD v2: 15-91298024-A-AT
• gnomAD v3: 15-90754794-A-AT
• gnomAD v4: 15-90754794-A-AT
• MyVariant Identifiers: chr15:g.91298025_91298026insT (hg19) ; chr15:g.91298024_91298025insT (hg19) ; chr15:g.90754794_90754795insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90754802dup , CM000677.2:g.90754802dup	GRCh38
NC_000015.9:g.91298032dup , CM000677.1:g.91298032dup	GRCh37
NC_000015.8:g.89099036dup	NCBI36
NG_007272.1:g.42431dup , LRG_20:g.42431dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.960-9dup MANE Select	ENSP00000347232.3:n.960-9dup
ENST00000648453.1:c.960-9dup	ENSP00000497646.1:n.960-9dup
ENST00000680772.1:c.960-9dup	ENSP00000506117.1:n.960-9dup
ENST00000681142.1:c.960-9dup	ENSP00000506682.1:n.960-9dup
ENST00000355112.7:c.960-9dup	ENSP00000347232.3:n.960-9dup
ENST00000558599.1:n.221-9dup
ENST00000559724.5:c.960-9dup	ENSP00000453359.1:n.960-9dup
ENST00000560509.5:c.960-9dup	ENSP00000454158.1:n.960-9dup
NM_000057.3:c.960-9dup	NP_000048.1:n.960-9dup
NM_001287246.1:c.960-9dup	NP_001274175.1:n.960-9dup
NM_001287247.1:c.960-9dup	NP_001274176.1:n.960-9dup
NM_001287248.1:c.-332-9dup	NP_001274177.1:n.-332-9dup
XM_011521881.1:c.-222-9dup	XP_011520183.1:n.-222-9dup
XM_011521882.1:c.960-9dup	XP_011520184.1:n.960-9dup
XM_011521881.2:c.-222-9dup	XP_011520183.1:n.-222-9dup
XM_011521882.3:c.960-9dup	XP_011520184.1:n.960-9dup
NM_000057.4:c.960-9dup MANE Select	NP_000048.1:n.960-9dup
NM_001287246.2:c.960-9dup	NP_001274175.1:n.960-9dup
NM_001287247.2:c.960-9dup	NP_001274176.1:n.960-9dup
NM_001287248.2:c.-332-9dup	NP_001274177.1:n.-332-9dup