Canonical Allele Identifier: CA7739170

Gene: BLM

Linked Data

• dbSNP Id: rs773451220
• ExAC: 15:91354525 CT / C
• gnomAD v2: 15-91354525-CT-C
• MyVariant Identifiers: chr15:g.91354526del (hg19) ; chr15:g.90811296del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90811297del , CM000677.2:g.90811297del	GRCh38
NC_000015.9:g.91354527del , CM000677.1:g.91354527del	GRCh37
NC_000015.8:g.89155531del	NCBI36
NG_007272.1:g.98926del , LRG_20:g.98926del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.3967del MANE Select	ENSP00000347232.3:p.Ser1323ProfsTer?
ENST00000560559.2:n.2540del
ENST00000648453.1:c.3967del	ENSP00000497646.1:p.Ser1323ProfsTer?
ENST00000680772.1:c.3967del	ENSP00000506117.1:p.Ser1323ProfsTer?
ENST00000681142.1:c.3967del	ENSP00000506682.1:p.Ser1323ProfsTer?
ENST00000355112.7:c.3967del	ENSP00000347232.3:p.Ser1323ProfsTer?
ENST00000558825.5:n.1314del
ENST00000559724.5:c.*2891del	ENSP00000453359.1:n.*2891del
ENST00000560136.5:n.1993del
ENST00000560509.5:c.3574del	ENSP00000454158.1:p.Ser1192ProfsTer?
ENST00000560821.1:n.387del
NM_000057.3:c.3967del	NP_000048.1:p.Ser1323ProfsTer?
NM_001287246.1:c.3967del	NP_001274175.1:p.Ser1323ProfsTer?
NM_001287247.1:c.3574del	NP_001274176.1:p.Ser1192ProfsTer?
NM_001287248.1:c.2842del	NP_001274177.1:p.Ser948ProfsTer?
XM_006720632.2:c.2005del	XP_006720695.1:p.Ser669ProfsTer?
XM_011521881.1:c.2653del	XP_011520183.1:p.Ser885ProfsTer?
XM_011521881.2:c.2653del	XP_011520183.1:p.Ser885ProfsTer?
NM_000057.4:c.3967del MANE Select	NP_000048.1:p.Ser1323ProfsTer?
NM_001287246.2:c.3967del	NP_001274175.1:p.Ser1323ProfsTer?
NM_001287247.2:c.3574del	NP_001274176.1:p.Ser1192ProfsTer?
NM_001287248.2:c.2842del	NP_001274177.1:p.Ser948ProfsTer?