Canonical Allele Identifier: CA912994806

Gene: BLM

Linked Data

• MyVariant Identifiers: chr15:g.91354446_91354447del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90811216_90811217del , CM000677.2:g.90811216_90811217del	GRCh38
NC_000015.9:g.91354446_91354447del , CM000677.1:g.91354446_91354447del	GRCh37
NC_000015.8:g.89155450_89155451del	NCBI36
NG_007272.1:g.98845_98846del , LRG_20:g.98845_98846del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.3886_3887del MANE Select	ENSP00000347232.3:p.Ser1296ProfsTer17
ENST00000560559.2:n.2459_2460del
ENST00000648453.1:c.3886_3887del	ENSP00000497646.1:p.Ser1296ProfsTer17
ENST00000680772.1:c.3886_3887del	ENSP00000506117.1:p.Ser1296ProfsTer17
ENST00000681142.1:c.3886_3887del	ENSP00000506682.1:p.Ser1296ProfsTer17
ENST00000355112.7:c.3886_3887del	ENSP00000347232.3:p.Ser1296ProfsTer17
ENST00000558825.5:n.1233_1234del
ENST00000559724.5:c.*2810_*2811del	ENSP00000453359.1:n.*2810_*2811del
ENST00000560136.5:n.1912_1913del
ENST00000560509.5:c.3493_3494del	ENSP00000454158.1:p.Ser1165ProfsTer17
ENST00000560821.1:n.306_307del
NM_000057.3:c.3886_3887del	NP_000048.1:p.Ser1296ProfsTer17
NM_001287246.1:c.3886_3887del	NP_001274175.1:p.Ser1296ProfsTer17
NM_001287247.1:c.3493_3494del	NP_001274176.1:p.Ser1165ProfsTer17
NM_001287248.1:c.2761_2762del	NP_001274177.1:p.Ser921ProfsTer17
XM_006720632.2:c.1924_1925del	XP_006720695.1:p.Ser642ProfsTer17
XM_011521881.1:c.2572_2573del	XP_011520183.1:p.Ser858ProfsTer17
XM_011521881.2:c.2572_2573del	XP_011520183.1:p.Ser858ProfsTer17
NM_000057.4:c.3886_3887del MANE Select	NP_000048.1:p.Ser1296ProfsTer17
NM_001287246.2:c.3886_3887del	NP_001274175.1:p.Ser1296ProfsTer17
NM_001287247.2:c.3493_3494del	NP_001274176.1:p.Ser1165ProfsTer17
NM_001287248.2:c.2761_2762del	NP_001274177.1:p.Ser921ProfsTer17