Canonical Allele Identifier: CA2630380861

Gene: BLM

Linked Data

• gnomAD v4: 15-90767076-A-AGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90767076_90767077insGGG , CM000677.2:g.90767076_90767077insGGG	GRCh38
NC_000015.9:g.91310306_91310307insGGG , CM000677.1:g.91310306_91310307insGGG	GRCh37
NC_000015.8:g.89111310_89111311insGGG	NCBI36
NG_007272.1:g.54705_54706insGGG , LRG_20:g.54705_54706insGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.2307+53_2307+54insGGG MANE Select	ENSP00000347232.3:n.2307+53_2307+54insGGG
ENST00000648453.1:c.2307+53_2307+54insGGG	ENSP00000497646.1:n.2307+53_2307+54insGGG
ENST00000680772.1:c.2307+53_2307+54insGGG	ENSP00000506117.1:n.2307+53_2307+54insGGG
ENST00000681142.1:c.2307+53_2307+54insGGG	ENSP00000506682.1:n.2307+53_2307+54insGGG
ENST00000355112.7:c.2307+53_2307+54insGGG	ENSP00000347232.3:n.2307+53_2307+54insGGG
ENST00000559426.5:n.484+53_484+54insGGG
ENST00000559724.5:c.*1231+53_*1231+54insGGG	ENSP00000453359.1:n.*1231+53_*1231+54insGGG
ENST00000560136.5:n.333+53_333+54insGGG
ENST00000560509.5:c.2307+53_2307+54insGGG	ENSP00000454158.1:n.2307+53_2307+54insGGG
NM_000057.3:c.2307+53_2307+54insGGG	NP_000048.1:n.2307+53_2307+54insGGG
NM_001287246.1:c.2307+53_2307+54insGGG	NP_001274175.1:n.2307+53_2307+54insGGG
NM_001287247.1:c.2307+53_2307+54insGGG	NP_001274176.1:n.2307+53_2307+54insGGG
NM_001287248.1:c.1182+53_1182+54insGGG	NP_001274177.1:n.1182+53_1182+54insGGG
XM_006720632.2:c.345+53_345+54insGGG	XP_006720695.1:n.345+53_345+54insGGG
XM_011521881.1:c.993+53_993+54insGGG	XP_011520183.1:n.993+53_993+54insGGG
XM_011521882.1:c.2307+53_2307+54insGGG	XP_011520184.1:n.2307+53_2307+54insGGG
XM_011521881.2:c.993+53_993+54insGGG	XP_011520183.1:n.993+53_993+54insGGG
XM_011521882.3:c.2307+53_2307+54insGGG	XP_011520184.1:n.2307+53_2307+54insGGG
NM_000057.4:c.2307+53_2307+54insGGG MANE Select	NP_000048.1:n.2307+53_2307+54insGGG
NM_001287246.2:c.2307+53_2307+54insGGG	NP_001274175.1:n.2307+53_2307+54insGGG
NM_001287247.2:c.2307+53_2307+54insGGG	NP_001274176.1:n.2307+53_2307+54insGGG
NM_001287248.2:c.1182+53_1182+54insGGG	NP_001274177.1:n.1182+53_1182+54insGGG