Canonical Allele Identifier: CA658824110

Gene: BLM

Linked Data

• ClinVar Variation Id: 554289
• ClinVar RCV Id: RCV000669899
• dbSNP Id: rs1555425080
• gnomAD v4: 15-90811285-AT-A
• MyVariant Identifiers: chr15:g.90811286del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90811286del , CM000677.2:g.90811286del	GRCh38
NC_000015.9:g.91354516del , CM000677.1:g.91354516del	GRCh37
NC_000015.8:g.89155520del	NCBI36
NG_007272.1:g.98915del , LRG_20:g.98915del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.3956del MANE Select	ENSP00000347232.3:p.Ile1319AsnfsTer?
ENST00000560559.2:n.2529del
ENST00000648453.1:c.3956del	ENSP00000497646.1:p.Ile1319AsnfsTer?
ENST00000680772.1:c.3956del	ENSP00000506117.1:p.Ile1319AsnfsTer?
ENST00000681142.1:c.3956del	ENSP00000506682.1:p.Ile1319AsnfsTer?
ENST00000355112.7:c.3956del	ENSP00000347232.3:p.Ile1319AsnfsTer?
ENST00000558825.5:n.1303del
ENST00000559724.5:c.*2880del	ENSP00000453359.1:n.*2880del
ENST00000560136.5:n.1982del
ENST00000560509.5:c.3563del	ENSP00000454158.1:p.Ile1188AsnfsTer?
ENST00000560821.1:n.376del
NM_000057.3:c.3956del	NP_000048.1:p.Ile1319AsnfsTer?
NM_001287246.1:c.3956del	NP_001274175.1:p.Ile1319AsnfsTer?
NM_001287247.1:c.3563del	NP_001274176.1:p.Ile1188AsnfsTer?
NM_001287248.1:c.2831del	NP_001274177.1:p.Ile944AsnfsTer?
XM_006720632.2:c.1994del	XP_006720695.1:p.Ile665AsnfsTer?
XM_011521881.1:c.2642del	XP_011520183.1:p.Ile881AsnfsTer?
XM_011521881.2:c.2642del	XP_011520183.1:p.Ile881AsnfsTer?
NM_000057.4:c.3956del MANE Select	NP_000048.1:p.Ile1319AsnfsTer?
NM_001287246.2:c.3956del	NP_001274175.1:p.Ile1319AsnfsTer?
NM_001287247.2:c.3563del	NP_001274176.1:p.Ile1188AsnfsTer?
NM_001287248.2:c.2831del	NP_001274177.1:p.Ile944AsnfsTer?