Canonical Allele Identifier: CA717020973

Gene: BLM

Linked Data

• dbSNP Id: rs1398387085
• MyVariant Identifiers: chr15:g.91309789_91309804del (hg19) ; chr15:g.90766559_90766574del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90766562_90766577del , CM000677.2:g.90766562_90766577del	GRCh38
NC_000015.9:g.91309792_91309807del , CM000677.1:g.91309792_91309807del	GRCh37
NC_000015.8:g.89110796_89110811del	NCBI36
NG_007272.1:g.54191_54206del , LRG_20:g.54191_54206del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.2194-348_2194-333del MANE Select	ENSP00000347232.3:n.2194-348_2194-333del
ENST00000648453.1:c.2194-348_2194-333del	ENSP00000497646.1:n.2194-348_2194-333del
ENST00000680772.1:c.2194-348_2194-333del	ENSP00000506117.1:n.2194-348_2194-333del
ENST00000681142.1:c.2194-348_2194-333del	ENSP00000506682.1:n.2194-348_2194-333del
ENST00000355112.7:c.2194-348_2194-333del	ENSP00000347232.3:n.2194-348_2194-333del
ENST00000559426.5:n.371-348_371-333del
ENST00000559724.5:c.*1118-348_*1118-333del	ENSP00000453359.1:n.*1118-348_*1118-333del
ENST00000560136.5:n.220-348_220-333del
ENST00000560509.5:c.2194-348_2194-333del	ENSP00000454158.1:n.2194-348_2194-333del
NM_000057.3:c.2194-348_2194-333del	NP_000048.1:n.2194-348_2194-333del
NM_001287246.1:c.2194-348_2194-333del	NP_001274175.1:n.2194-348_2194-333del
NM_001287247.1:c.2194-348_2194-333del	NP_001274176.1:n.2194-348_2194-333del
NM_001287248.1:c.1069-348_1069-333del	NP_001274177.1:n.1069-348_1069-333del
XM_006720632.2:c.232-348_232-333del	XP_006720695.1:n.232-348_232-333del
XM_011521881.1:c.880-348_880-333del	XP_011520183.1:n.880-348_880-333del
XM_011521882.1:c.2194-348_2194-333del	XP_011520184.1:n.2194-348_2194-333del
XM_011521881.2:c.880-348_880-333del	XP_011520183.1:n.880-348_880-333del
XM_011521882.3:c.2194-348_2194-333del	XP_011520184.1:n.2194-348_2194-333del
NM_000057.4:c.2194-348_2194-333del MANE Select	NP_000048.1:n.2194-348_2194-333del
NM_001287246.2:c.2194-348_2194-333del	NP_001274175.1:n.2194-348_2194-333del
NM_001287247.2:c.2194-348_2194-333del	NP_001274176.1:n.2194-348_2194-333del
NM_001287248.2:c.1069-348_1069-333del	NP_001274177.1:n.1069-348_1069-333del