Canonical Allele Identifier: CA2630382226

Gene: BLM

Linked Data

• gnomAD v4: 15-90794145-C-CTA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90794148_90794149dup , CM000677.2:g.90794148_90794149dup	GRCh38
NC_000015.9:g.91337378_91337379dup , CM000677.1:g.91337378_91337379dup	GRCh37
NC_000015.8:g.89138382_89138383dup	NCBI36
NG_007272.1:g.81777_81778dup , LRG_20:g.81777_81778dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000355112.8:c.3020-19_3020-18dup MANE Select	ENSP00000347232.3:n.3020-19_3020-18dup
ENST00000560559.2:n.1593-19_1593-18dup
ENST00000648453.1:c.3020-19_3020-18dup	ENSP00000497646.1:n.3020-19_3020-18dup
ENST00000680772.1:c.3020-19_3020-18dup	ENSP00000506117.1:n.3020-19_3020-18dup
ENST00000681142.1:c.3020-19_3020-18dup	ENSP00000506682.1:n.3020-19_3020-18dup
ENST00000355112.7:c.3020-19_3020-18dup	ENSP00000347232.3:n.3020-19_3020-18dup
ENST00000558825.5:n.348_349dup
ENST00000559724.5:c.*1944-19_*1944-18dup	ENSP00000453359.1:n.*1944-19_*1944-18dup
ENST00000560136.5:n.1046-19_1046-18dup
ENST00000560509.5:c.3020-19_3020-18dup	ENSP00000454158.1:n.3020-19_3020-18dup
ENST00000560559.1:n.557-19_557-18dup
NM_000057.3:c.3020-19_3020-18dup	NP_000048.1:n.3020-19_3020-18dup
NM_001287246.1:c.3020-19_3020-18dup	NP_001274175.1:n.3020-19_3020-18dup
NM_001287247.1:c.3020-19_3020-18dup	NP_001274176.1:n.3020-19_3020-18dup
NM_001287248.1:c.1895-19_1895-18dup	NP_001274177.1:n.1895-19_1895-18dup
XM_006720632.2:c.1058-19_1058-18dup	XP_006720695.1:n.1058-19_1058-18dup
XM_011521881.1:c.1706-19_1706-18dup	XP_011520183.1:n.1706-19_1706-18dup
XM_011521881.2:c.1706-19_1706-18dup	XP_011520183.1:n.1706-19_1706-18dup
NM_000057.4:c.3020-19_3020-18dup MANE Select	NP_000048.1:n.3020-19_3020-18dup
NM_001287246.2:c.3020-19_3020-18dup	NP_001274175.1:n.3020-19_3020-18dup
NM_001287247.2:c.3020-19_3020-18dup	NP_001274176.1:n.3020-19_3020-18dup
NM_001287248.2:c.1895-19_1895-18dup	NP_001274177.1:n.1895-19_1895-18dup