Canonical Allele Identifier: CA2195283190

Gene: BLM

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90767023_90767027delinsGGTTT , CM000677.2:g.90767023_90767027delinsGGTTT	GRCh38
NC_000015.9:g.91310253_91310257delinsGGTTT , CM000677.1:g.91310253_91310257delinsGGTTT	GRCh37
NC_000015.8:g.89111257_89111261delinsGGTTT	NCBI36
NG_007272.1:g.54652_54656delinsGGTTT , LRG_20:g.54652_54656delinsGGTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.2307_2307+4delinsGGTTT
ENST00000648453.1:c.2307_2307+4delinsGGTTT
ENST00000680772.1:c.2307_2307+4delinsGGTTT
ENST00000681142.1:c.2307_2307+4delinsGGTTT
ENST00000355112.7:c.2307_2307+4delinsGGTTT
ENST00000559426.5:n.484_484+4delinsGGTTT
ENST00000559724.5:c.*1231_*1231+4delinsGGTTT
ENST00000560136.5:n.333_333+4delinsGGTTT
ENST00000560509.5:c.2307_2307+4delinsGGTTT
NM_000057.3:c.2307_2307+4delinsGGTTT
NM_001287246.1:c.2307_2307+4delinsGGTTT
NM_001287247.1:c.2307_2307+4delinsGGTTT
NM_001287248.1:c.1182_1182+4delinsGGTTT
XM_006720632.2:c.345_345+4delinsGGTTT
XM_011521881.1:c.993_993+4delinsGGTTT
XM_011521882.1:c.2307_2307+4delinsGGTTT
XM_011521881.2:c.993_993+4delinsGGTTT
XM_011521882.3:c.2307_2307+4delinsGGTTT
NM_000057.4:c.2307_2307+4delinsGGTTT
NM_001287246.2:c.2307_2307+4delinsGGTTT
NM_001287247.2:c.2307_2307+4delinsGGTTT
NM_001287248.2:c.1182_1182+4delinsGGTTT