Canonical Allele Identifier: CA2580090293

Gene: BLM

Linked Data

• ClinVar Variation Id: 2113591
• ClinVar RCV Id: RCV003038852
• gnomAD v4: 15-90794215-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90794216del , CM000677.2:g.90794216del	GRCh38
NC_000015.9:g.91337446del , CM000677.1:g.91337446del	GRCh37
NC_000015.8:g.89138450del	NCBI36
NG_007272.1:g.81845del , LRG_20:g.81845del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.3069del MANE Select	ENSP00000347232.3:p.Leu1023PhefsTer11
ENST00000560559.2:n.1642del
ENST00000648453.1:c.3069del	ENSP00000497646.1:p.Leu1023PhefsTer11
ENST00000680772.1:c.3069del	ENSP00000506117.1:p.Leu1023PhefsTer11
ENST00000681142.1:c.3069del	ENSP00000506682.1:p.Leu1023PhefsTer11
ENST00000355112.7:c.3069del	ENSP00000347232.3:p.Leu1023PhefsTer11
ENST00000558825.5:n.416del
ENST00000559724.5:c.*1993del	ENSP00000453359.1:n.*1993del
ENST00000560136.5:n.1095del
ENST00000560509.5:c.3069del	ENSP00000454158.1:p.Leu1023PhefsTer11
ENST00000560559.1:n.606del
NM_000057.3:c.3069del	NP_000048.1:p.Leu1023PhefsTer11
NM_001287246.1:c.3069del	NP_001274175.1:p.Leu1023PhefsTer11
NM_001287247.1:c.3069del	NP_001274176.1:p.Leu1023PhefsTer11
NM_001287248.1:c.1944del	NP_001274177.1:p.Leu648PhefsTer11
XM_006720632.2:c.1107del	XP_006720695.1:p.Leu369PhefsTer11
XM_011521881.1:c.1755del	XP_011520183.1:p.Leu585PhefsTer11
XM_011521881.2:c.1755del	XP_011520183.1:p.Leu585PhefsTer11
NM_000057.4:c.3069del MANE Select	NP_000048.1:p.Leu1023PhefsTer11
NM_001287246.2:c.3069del	NP_001274175.1:p.Leu1023PhefsTer11
NM_001287247.2:c.3069del	NP_001274176.1:p.Leu1023PhefsTer11
NM_001287248.2:c.1944del	NP_001274177.1:p.Leu648PhefsTer11