Canonical Allele Identifier: CA972704781

Gene: BLM

Linked Data

• gnomAD v3: 15-90812169-AATC-A
• gnomAD v4: 15-90812169-AATC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90812170_90812172del , CM000677.2:g.90812170_90812172del	GRCh38
NC_000015.9:g.91355400_91355402del , CM000677.1:g.91355400_91355402del	GRCh37
NC_000015.8:g.89156404_89156406del	NCBI36
NG_007272.1:g.99799_99801del , LRG_20:g.99799_99801del

Transcript Alleles

HGVS	Amino-acid change
ENST00000355112.8:c.4076+764_4076+766del MANE Select	ENSP00000347232.3:n.4076+764_4076+766del
ENST00000560559.2:n.2649+764_2649+766del
ENST00000648453.1:c.*38+370_*38+372del	ENSP00000497646.1:n.*38+370_*38+372del
ENST00000680772.1:c.4076+764_4076+766del	ENSP00000506117.1:n.4076+764_4076+766del
ENST00000355112.7:c.4076+764_4076+766del	ENSP00000347232.3:n.4076+764_4076+766del
ENST00000558825.5:n.1423+764_1423+766del
ENST00000559724.5:c.*3000+764_*3000+766del	ENSP00000453359.1:n.*3000+764_*3000+766del
ENST00000560509.5:c.3683+764_3683+766del	ENSP00000454158.1:n.3683+764_3683+766del
ENST00000560821.1:n.496+764_496+766del
NM_000057.3:c.4076+764_4076+766del	NP_000048.1:n.4076+764_4076+766del
NM_001287246.1:c.4076+764_4076+766del	NP_001274175.1:n.4076+764_4076+766del
NM_001287247.1:c.3683+764_3683+766del	NP_001274176.1:n.3683+764_3683+766del
NM_001287248.1:c.2951+764_2951+766del	NP_001274177.1:n.2951+764_2951+766del
XM_006720632.2:c.2114+764_2114+766del	XP_006720695.1:n.2114+764_2114+766del
XM_011521881.1:c.2762+764_2762+766del	XP_011520183.1:n.2762+764_2762+766del
XM_011521881.2:c.2762+764_2762+766del	XP_011520183.1:n.2762+764_2762+766del
NM_000057.4:c.4076+764_4076+766del MANE Select	NP_000048.1:n.4076+764_4076+766del
NM_001287246.2:c.4076+764_4076+766del	NP_001274175.1:n.4076+764_4076+766del
NM_001287247.2:c.3683+764_3683+766del	NP_001274176.1:n.3683+764_3683+766del
NM_001287248.2:c.2951+764_2951+766del	NP_001274177.1:n.2951+764_2951+766del