Canonical Allele Identifier: CA7738923

Gene: BLM

Linked Data

• dbSNP Id: rs750716488
• ExAC: 15:91337359 CTATAAG / C
• gnomAD v2: 15-91337359-CTATAAG-C
• gnomAD v3: 15-90794129-CTATAAG-C
• gnomAD v4: 15-90794129-CTATAAG-C
• MyVariant Identifiers: chr15:g.91337360_91337365del (hg19) ; chr15:g.90794131_90794136del (hg38) ; chr15:g.90794130_90794135del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90794133_90794138del , CM000677.2:g.90794133_90794138del	GRCh38
NC_000015.9:g.91337363_91337368del , CM000677.1:g.91337363_91337368del	GRCh37
NC_000015.8:g.89138367_89138372del	NCBI36
NG_007272.1:g.81762_81767del , LRG_20:g.81762_81767del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.3020-34_3020-29del MANE Select	ENSP00000347232.3:n.3020-34_3020-29del
ENST00000560559.2:n.1593-34_1593-29del
ENST00000648453.1:c.3020-34_3020-29del	ENSP00000497646.1:n.3020-34_3020-29del
ENST00000680772.1:c.3020-34_3020-29del	ENSP00000506117.1:n.3020-34_3020-29del
ENST00000681142.1:c.3020-34_3020-29del	ENSP00000506682.1:n.3020-34_3020-29del
ENST00000355112.7:c.3020-34_3020-29del	ENSP00000347232.3:n.3020-34_3020-29del
ENST00000558825.5:n.333_338del
ENST00000559724.5:c.*1944-34_*1944-29del	ENSP00000453359.1:n.*1944-34_*1944-29del
ENST00000560136.5:n.1046-34_1046-29del
ENST00000560509.5:c.3020-34_3020-29del	ENSP00000454158.1:n.3020-34_3020-29del
ENST00000560559.1:n.557-34_557-29del
NM_000057.3:c.3020-34_3020-29del	NP_000048.1:n.3020-34_3020-29del
NM_001287246.1:c.3020-34_3020-29del	NP_001274175.1:n.3020-34_3020-29del
NM_001287247.1:c.3020-34_3020-29del	NP_001274176.1:n.3020-34_3020-29del
NM_001287248.1:c.1895-34_1895-29del	NP_001274177.1:n.1895-34_1895-29del
XM_006720632.2:c.1058-34_1058-29del	XP_006720695.1:n.1058-34_1058-29del
XM_011521881.1:c.1706-34_1706-29del	XP_011520183.1:n.1706-34_1706-29del
XM_011521881.2:c.1706-34_1706-29del	XP_011520183.1:n.1706-34_1706-29del
NM_000057.4:c.3020-34_3020-29del MANE Select	NP_000048.1:n.3020-34_3020-29del
NM_001287246.2:c.3020-34_3020-29del	NP_001274175.1:n.3020-34_3020-29del
NM_001287247.2:c.3020-34_3020-29del	NP_001274176.1:n.3020-34_3020-29del
NM_001287248.2:c.1895-34_1895-29del	NP_001274177.1:n.1895-34_1895-29del