Canonical Allele Identifier: CA972704763

Gene: BLM

Linked Data

• gnomAD v3: 15-90812158-T-TTTTTTA
• gnomAD v4: 15-90812158-T-TTTTTTA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90812158_90812159insTTTTTA , CM000677.2:g.90812158_90812159insTTTTTA	GRCh38
NC_000015.9:g.91355388_91355389insTTTTTA , CM000677.1:g.91355388_91355389insTTTTTA	GRCh37
NC_000015.8:g.89156392_89156393insTTTTTA	NCBI36
NG_007272.1:g.99787_99788insTTTTTA , LRG_20:g.99787_99788insTTTTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.4076+752_4076+753insTTTTTA MANE Select	ENSP00000347232.3:n.4076+752_4076+753insTTTTTA
ENST00000560559.2:n.2649+752_2649+753insTTTTTA
ENST00000648453.1:c.*38+358_*38+359insTTTTTA	ENSP00000497646.1:n.*38+358_*38+359insTTTTTA
ENST00000680772.1:c.4076+752_4076+753insTTTTTA	ENSP00000506117.1:n.4076+752_4076+753insTTTTTA
ENST00000355112.7:c.4076+752_4076+753insTTTTTA	ENSP00000347232.3:n.4076+752_4076+753insTTTTTA
ENST00000558825.5:n.1423+752_1423+753insTTTTTA
ENST00000559724.5:c.*3000+752_*3000+753insTTTTTA	ENSP00000453359.1:n.*3000+752_*3000+753insTTTTTA
ENST00000560509.5:c.3683+752_3683+753insTTTTTA	ENSP00000454158.1:n.3683+752_3683+753insTTTTTA
ENST00000560821.1:n.496+752_496+753insTTTTTA
NM_000057.3:c.4076+752_4076+753insTTTTTA	NP_000048.1:n.4076+752_4076+753insTTTTTA
NM_001287246.1:c.4076+752_4076+753insTTTTTA	NP_001274175.1:n.4076+752_4076+753insTTTTTA
NM_001287247.1:c.3683+752_3683+753insTTTTTA	NP_001274176.1:n.3683+752_3683+753insTTTTTA
NM_001287248.1:c.2951+752_2951+753insTTTTTA	NP_001274177.1:n.2951+752_2951+753insTTTTTA
XM_006720632.2:c.2114+752_2114+753insTTTTTA	XP_006720695.1:n.2114+752_2114+753insTTTTTA
XM_011521881.1:c.2762+752_2762+753insTTTTTA	XP_011520183.1:n.2762+752_2762+753insTTTTTA
XM_011521881.2:c.2762+752_2762+753insTTTTTA	XP_011520183.1:n.2762+752_2762+753insTTTTTA
NM_000057.4:c.4076+752_4076+753insTTTTTA MANE Select	NP_000048.1:n.4076+752_4076+753insTTTTTA
NM_001287246.2:c.4076+752_4076+753insTTTTTA	NP_001274175.1:n.4076+752_4076+753insTTTTTA
NM_001287247.2:c.3683+752_3683+753insTTTTTA	NP_001274176.1:n.3683+752_3683+753insTTTTTA
NM_001287248.2:c.2951+752_2951+753insTTTTTA	NP_001274177.1:n.2951+752_2951+753insTTTTTA