Canonical Allele Identifier: CA7738699

Gene: BLM

Linked Data

• ClinVar Variation Id: 803133
• ClinVar RCV Id: RCV000989390
• dbSNP Id: rs758886088
• ExAC: 15:91310156 T / TA
• gnomAD v2: 15-91310156-T-TA
• gnomAD v3: 15-90766926-T-TA
• gnomAD v4: 15-90766926-T-TA
• MyVariant Identifiers: chr15:g.91310156_91310157insA (hg19) ; chr15:g.90766926_90766927insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90766926_90766927insA , CM000677.2:g.90766926_90766927insA	GRCh38
NC_000015.9:g.91310156_91310157insA , CM000677.1:g.91310156_91310157insA	GRCh37
NC_000015.8:g.89111160_89111161insA	NCBI36
NG_007272.1:g.54555_54556insA , LRG_20:g.54555_54556insA

Transcript Alleles

HGVS	Amino-acid change
ENST00000355112.8:c.2210_2211insA MANE Select	ENSP00000347232.3:p.Thr738AspfsTer3
ENST00000648453.1:c.2210_2211insA	ENSP00000497646.1:p.Thr738AspfsTer3
ENST00000680772.1:c.2210_2211insA	ENSP00000506117.1:p.Thr738AspfsTer3
ENST00000681142.1:c.2210_2211insA	ENSP00000506682.1:p.Thr738AspfsTer3
ENST00000355112.7:c.2210_2211insA	ENSP00000347232.3:p.Thr738AspfsTer3
ENST00000559426.5:n.387_388insA
ENST00000559724.5:c.*1134_*1135insA	ENSP00000453359.1:n.*1134_*1135insA
ENST00000560136.5:n.236_237insA
ENST00000560509.5:c.2210_2211insA	ENSP00000454158.1:p.Thr738AspfsTer3
NM_000057.3:c.2210_2211insA	NP_000048.1:p.Thr738AspfsTer3
NM_001287246.1:c.2210_2211insA	NP_001274175.1:p.Thr738AspfsTer3
NM_001287247.1:c.2210_2211insA	NP_001274176.1:p.Thr738AspfsTer3
NM_001287248.1:c.1085_1086insA	NP_001274177.1:p.Thr363AspfsTer3
XM_006720632.2:c.248_249insA	XP_006720695.1:p.Thr84AspfsTer3
XM_011521881.1:c.896_897insA	XP_011520183.1:p.Thr300AspfsTer3
XM_011521882.1:c.2210_2211insA	XP_011520184.1:p.Thr738AspfsTer3
XM_011521881.2:c.896_897insA	XP_011520183.1:p.Thr300AspfsTer3
XM_011521882.3:c.2210_2211insA	XP_011520184.1:p.Thr738AspfsTer3
NM_000057.4:c.2210_2211insA MANE Select	NP_000048.1:p.Thr738AspfsTer3
NM_001287246.2:c.2210_2211insA	NP_001274175.1:p.Thr738AspfsTer3
NM_001287247.2:c.2210_2211insA	NP_001274176.1:p.Thr738AspfsTer3
NM_001287248.2:c.1085_1086insA	NP_001274177.1:p.Thr363AspfsTer3