Canonical Allele Identifier: CA2499705498

Gene: BLM

Linked Data

• gnomAD v4: 15-90793947-GAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90793957_90793958del , CM000677.2:g.90793957_90793958del	GRCh38
NC_000015.9:g.91337187_91337188del , CM000677.1:g.91337187_91337188del	GRCh37
NC_000015.8:g.89138191_89138192del	NCBI36
NG_007272.1:g.81586_81587del , LRG_20:g.81586_81587del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.3020-210_3020-209del MANE Select	ENSP00000347232.3:n.3020-210_3020-209del
ENST00000560559.2:n.1593-210_1593-209del
ENST00000648453.1:c.3020-210_3020-209del	ENSP00000497646.1:n.3020-210_3020-209del
ENST00000680772.1:c.3020-210_3020-209del	ENSP00000506117.1:n.3020-210_3020-209del
ENST00000681142.1:c.3020-210_3020-209del	ENSP00000506682.1:n.3020-210_3020-209del
ENST00000355112.7:c.3020-210_3020-209del	ENSP00000347232.3:n.3020-210_3020-209del
ENST00000558825.5:n.157_158del
ENST00000559724.5:c.*1944-210_*1944-209del	ENSP00000453359.1:n.*1944-210_*1944-209del
ENST00000560136.5:n.1046-210_1046-209del
ENST00000560509.5:c.3020-210_3020-209del	ENSP00000454158.1:n.3020-210_3020-209del
ENST00000560559.1:n.557-210_557-209del
NM_000057.3:c.3020-210_3020-209del	NP_000048.1:n.3020-210_3020-209del
NM_001287246.1:c.3020-210_3020-209del	NP_001274175.1:n.3020-210_3020-209del
NM_001287247.1:c.3020-210_3020-209del	NP_001274176.1:n.3020-210_3020-209del
NM_001287248.1:c.1895-210_1895-209del	NP_001274177.1:n.1895-210_1895-209del
XM_006720632.2:c.1058-210_1058-209del	XP_006720695.1:n.1058-210_1058-209del
XM_011521881.1:c.1706-210_1706-209del	XP_011520183.1:n.1706-210_1706-209del
XM_011521881.2:c.1706-210_1706-209del	XP_011520183.1:n.1706-210_1706-209del
NM_000057.4:c.3020-210_3020-209del MANE Select	NP_000048.1:n.3020-210_3020-209del
NM_001287246.2:c.3020-210_3020-209del	NP_001274175.1:n.3020-210_3020-209del
NM_001287247.2:c.3020-210_3020-209del	NP_001274176.1:n.3020-210_3020-209del
NM_001287248.2:c.1895-210_1895-209del	NP_001274177.1:n.1895-210_1895-209del