Canonical Allele Identifier: CA972704813

Gene: BLM

Linked Data

• gnomAD v3: 15-90812177-G-GA
• gnomAD v4: 15-90812177-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90812177_90812178insA , CM000677.2:g.90812177_90812178insA	GRCh38
NC_000015.9:g.91355407_91355408insA , CM000677.1:g.91355407_91355408insA	GRCh37
NC_000015.8:g.89156411_89156412insA	NCBI36
NG_007272.1:g.99806_99807insA , LRG_20:g.99806_99807insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.4076+771_4076+772insA MANE Select	ENSP00000347232.3:n.4076+771_4076+772insA
ENST00000560559.2:n.2649+771_2649+772insA
ENST00000648453.1:c.*38+377_*38+378insA	ENSP00000497646.1:n.*38+377_*38+378insA
ENST00000680772.1:c.4076+771_4076+772insA	ENSP00000506117.1:n.4076+771_4076+772insA
ENST00000355112.7:c.4076+771_4076+772insA	ENSP00000347232.3:n.4076+771_4076+772insA
ENST00000558825.5:n.1423+771_1423+772insA
ENST00000559724.5:c.*3000+771_*3000+772insA	ENSP00000453359.1:n.*3000+771_*3000+772insA
ENST00000560509.5:c.3683+771_3683+772insA	ENSP00000454158.1:n.3683+771_3683+772insA
ENST00000560821.1:n.496+771_496+772insA
NM_000057.3:c.4076+771_4076+772insA	NP_000048.1:n.4076+771_4076+772insA
NM_001287246.1:c.4076+771_4076+772insA	NP_001274175.1:n.4076+771_4076+772insA
NM_001287247.1:c.3683+771_3683+772insA	NP_001274176.1:n.3683+771_3683+772insA
NM_001287248.1:c.2951+771_2951+772insA	NP_001274177.1:n.2951+771_2951+772insA
XM_006720632.2:c.2114+771_2114+772insA	XP_006720695.1:n.2114+771_2114+772insA
XM_011521881.1:c.2762+771_2762+772insA	XP_011520183.1:n.2762+771_2762+772insA
XM_011521881.2:c.2762+771_2762+772insA	XP_011520183.1:n.2762+771_2762+772insA
NM_000057.4:c.4076+771_4076+772insA MANE Select	NP_000048.1:n.4076+771_4076+772insA
NM_001287246.2:c.4076+771_4076+772insA	NP_001274175.1:n.4076+771_4076+772insA
NM_001287247.2:c.3683+771_3683+772insA	NP_001274176.1:n.3683+771_3683+772insA
NM_001287248.2:c.2951+771_2951+772insA	NP_001274177.1:n.2951+771_2951+772insA