Canonical Allele Identifier: CA619578107

Gene: BLM

Linked Data

• dbSNP Id: rs1198350396
• gnomAD v2: 15-91298007-A-AGTAT
• gnomAD v4: 15-90754777-A-AGTAT
• MyVariant Identifiers: chr15:g.91298007_91298008insGTAT (hg19) ; chr15:g.90754777_90754778insGTAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90754779_90754782dup , CM000677.2:g.90754779_90754782dup	GRCh38
NC_000015.9:g.91298009_91298012dup , CM000677.1:g.91298009_91298012dup	GRCh37
NC_000015.8:g.89099013_89099016dup	NCBI36
NG_007272.1:g.42408_42411dup , LRG_20:g.42408_42411dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000355112.8:c.960-32_960-29dup MANE Select	ENSP00000347232.3:n.960-32_960-29dup
ENST00000648453.1:c.960-32_960-29dup	ENSP00000497646.1:n.960-32_960-29dup
ENST00000680772.1:c.960-32_960-29dup	ENSP00000506117.1:n.960-32_960-29dup
ENST00000681142.1:c.960-32_960-29dup	ENSP00000506682.1:n.960-32_960-29dup
ENST00000355112.7:c.960-32_960-29dup	ENSP00000347232.3:n.960-32_960-29dup
ENST00000558599.1:n.221-32_221-29dup
ENST00000559724.5:c.960-32_960-29dup	ENSP00000453359.1:n.960-32_960-29dup
ENST00000560509.5:c.960-32_960-29dup	ENSP00000454158.1:n.960-32_960-29dup
NM_000057.3:c.960-32_960-29dup	NP_000048.1:n.960-32_960-29dup
NM_001287246.1:c.960-32_960-29dup	NP_001274175.1:n.960-32_960-29dup
NM_001287247.1:c.960-32_960-29dup	NP_001274176.1:n.960-32_960-29dup
NM_001287248.1:c.-332-32_-332-29dup	NP_001274177.1:n.-332-32_-332-29dup
XM_011521881.1:c.-222-32_-222-29dup	XP_011520183.1:n.-222-32_-222-29dup
XM_011521882.1:c.960-32_960-29dup	XP_011520184.1:n.960-32_960-29dup
XM_011521881.2:c.-222-32_-222-29dup	XP_011520183.1:n.-222-32_-222-29dup
XM_011521882.3:c.960-32_960-29dup	XP_011520184.1:n.960-32_960-29dup
NM_000057.4:c.960-32_960-29dup MANE Select	NP_000048.1:n.960-32_960-29dup
NM_001287246.2:c.960-32_960-29dup	NP_001274175.1:n.960-32_960-29dup
NM_001287247.2:c.960-32_960-29dup	NP_001274176.1:n.960-32_960-29dup
NM_001287248.2:c.-332-32_-332-29dup	NP_001274177.1:n.-332-32_-332-29dup