Canonical Allele Identifier: CA717001026

Gene: BLM

Linked Data

• dbSNP Id: rs1350789346
• gnomAD v3: 15-90811571-CAAAAATATTTGCTTCAAGAAACAACA-C
• gnomAD v4: 15-90811571-CAAAAATATTTGCTTCAAGAAACAACA-C
• MyVariant Identifiers: chr15:g.91354802_91354827del (hg19) ; chr15:g.90811572_90811597del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90811588_90811613del , CM000677.2:g.90811588_90811613del	GRCh38
NC_000015.9:g.91354818_91354843del , CM000677.1:g.91354818_91354843del	GRCh37
NC_000015.8:g.89155822_89155847del	NCBI36
NG_007272.1:g.99217_99242del , LRG_20:g.99217_99242del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.4076+182_4076+207del MANE Select	ENSP00000347232.3:n.4076+182_4076+207del
ENST00000560559.2:n.2649+182_2649+207del
ENST00000648453.1:c.4077-90_4077-65del	ENSP00000497646.1:n.4077-90_4077-65del
ENST00000680772.1:c.4076+182_4076+207del	ENSP00000506117.1:n.4076+182_4076+207del
ENST00000681142.1:c.4076+182_4076+207del	ENSP00000506682.1:n.4076+182_4076+207del
ENST00000355112.7:c.4076+182_4076+207del	ENSP00000347232.3:n.4076+182_4076+207del
ENST00000558825.5:n.1423+182_1423+207del
ENST00000559724.5:c.*3000+182_*3000+207del	ENSP00000453359.1:n.*3000+182_*3000+207del
ENST00000560509.5:c.3683+182_3683+207del	ENSP00000454158.1:n.3683+182_3683+207del
ENST00000560821.1:n.496+182_496+207del
NM_000057.3:c.4076+182_4076+207del	NP_000048.1:n.4076+182_4076+207del
NM_001287246.1:c.4076+182_4076+207del	NP_001274175.1:n.4076+182_4076+207del
NM_001287247.1:c.3683+182_3683+207del	NP_001274176.1:n.3683+182_3683+207del
NM_001287248.1:c.2951+182_2951+207del	NP_001274177.1:n.2951+182_2951+207del
XM_006720632.2:c.2114+182_2114+207del	XP_006720695.1:n.2114+182_2114+207del
XM_011521881.1:c.2762+182_2762+207del	XP_011520183.1:n.2762+182_2762+207del
XM_011521881.2:c.2762+182_2762+207del	XP_011520183.1:n.2762+182_2762+207del
NM_000057.4:c.4076+182_4076+207del MANE Select	NP_000048.1:n.4076+182_4076+207del
NM_001287246.2:c.4076+182_4076+207del	NP_001274175.1:n.4076+182_4076+207del
NM_001287247.2:c.3683+182_3683+207del	NP_001274176.1:n.3683+182_3683+207del
NM_001287248.2:c.2951+182_2951+207del	NP_001274177.1:n.2951+182_2951+207del