Canonical Allele Identifier: CA2573151462

Gene: BLM

Linked Data

• ClinVar Variation Id: 1498471
• ClinVar RCV Id: RCV002019668 ; RCV002324467
• dbSNP Id: rs2151200003

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90811390_90811392del , CM000677.2:g.90811390_90811392del	GRCh38
NC_000015.9:g.91354620_91354622del , CM000677.1:g.91354620_91354622del	GRCh37
NC_000015.8:g.89155624_89155626del	NCBI36
NG_007272.1:g.99019_99021del , LRG_20:g.99019_99021del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.4060_4062del MANE Select	ENSP00000347232.3:p.Gly1354del
ENST00000560559.2:n.2633_2635del
ENST00000648453.1:c.4060_4062del	ENSP00000497646.1:p.Gly1354del
ENST00000680772.1:c.4060_4062del	ENSP00000506117.1:p.Gly1354del
ENST00000681142.1:c.4060_4062del	ENSP00000506682.1:p.Gly1354del
ENST00000355112.7:c.4060_4062del	ENSP00000347232.3:p.Gly1354del
ENST00000558825.5:n.1407_1409del
ENST00000559724.5:c.*2984_*2986del	ENSP00000453359.1:n.*2984_*2986del
ENST00000560509.5:c.3667_3669del	ENSP00000454158.1:p.Gly1223del
ENST00000560821.1:n.480_482del
NM_000057.3:c.4060_4062del	NP_000048.1:p.Gly1354del
NM_001287246.1:c.4060_4062del	NP_001274175.1:p.Gly1354del
NM_001287247.1:c.3667_3669del	NP_001274176.1:p.Gly1223del
NM_001287248.1:c.2935_2937del	NP_001274177.1:p.Gly979del
XM_006720632.2:c.2098_2100del	XP_006720695.1:p.Gly700del
XM_011521881.1:c.2746_2748del	XP_011520183.1:p.Gly916del
XM_011521881.2:c.2746_2748del	XP_011520183.1:p.Gly916del
NM_000057.4:c.4060_4062del MANE Select	NP_000048.1:p.Gly1354del
NM_001287246.2:c.4060_4062del	NP_001274175.1:p.Gly1354del
NM_001287247.2:c.3667_3669del	NP_001274176.1:p.Gly1223del
NM_001287248.2:c.2935_2937del	NP_001274177.1:p.Gly979del