Canonical Allele Identifier: CA891843636

Gene: BLM

Linked Data

• ClinVar Variation Id: 573831
• ClinVar RCV Id: RCV000695601 ; RCV003163195
• dbSNP Id: rs1567066844

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90811274_90811275delinsCT , CM000677.2:g.90811274_90811275delinsCT	GRCh38
NC_000015.9:g.91354504_91354505delinsCT , CM000677.1:g.91354504_91354505delinsCT	GRCh37
NC_000015.8:g.89155508_89155509delinsCT	NCBI36
NG_007272.1:g.98903_98904delinsCT , LRG_20:g.98903_98904delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.3944_3945delinsCT MANE Select	ENSP00000347232.3:p.Leu1315Pro
ENST00000560559.2:n.2517_2518delinsCT
ENST00000648453.1:c.3944_3945delinsCT	ENSP00000497646.1:p.Leu1315Pro
ENST00000680772.1:c.3944_3945delinsCT	ENSP00000506117.1:p.Leu1315Pro
ENST00000681142.1:c.3944_3945delinsCT	ENSP00000506682.1:p.Leu1315Pro
ENST00000355112.7:c.3944_3945delinsCT	ENSP00000347232.3:p.Leu1315Pro
ENST00000558825.5:n.1291_1292delinsCT
ENST00000559724.5:c.*2868_*2869delinsCT	ENSP00000453359.1:n.*2868_*2869delinsCT
ENST00000560136.5:n.1970_1971delinsCT
ENST00000560509.5:c.3551_3552delinsCT	ENSP00000454158.1:p.Leu1184Pro
ENST00000560821.1:n.364_365delinsCT
NM_000057.3:c.3944_3945delinsCT	NP_000048.1:p.Leu1315Pro
NM_001287246.1:c.3944_3945delinsCT	NP_001274175.1:p.Leu1315Pro
NM_001287247.1:c.3551_3552delinsCT	NP_001274176.1:p.Leu1184Pro
NM_001287248.1:c.2819_2820delinsCT	NP_001274177.1:p.Leu940Pro
XM_006720632.2:c.1982_1983delinsCT	XP_006720695.1:p.Leu661Pro
XM_011521881.1:c.2630_2631delinsCT	XP_011520183.1:p.Leu877Pro
XM_011521881.2:c.2630_2631delinsCT	XP_011520183.1:p.Leu877Pro
NM_000057.4:c.3944_3945delinsCT MANE Select	NP_000048.1:p.Leu1315Pro
NM_001287246.2:c.3944_3945delinsCT	NP_001274175.1:p.Leu1315Pro
NM_001287247.2:c.3551_3552delinsCT	NP_001274176.1:p.Leu1184Pro
NM_001287248.2:c.2819_2820delinsCT	NP_001274177.1:p.Leu940Pro