Canonical Allele Identifier: CA2537883041

Gene: BLM

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90766895_90766896insG , CM000677.2:g.90766895_90766896insG	GRCh38
NC_000015.9:g.91310125_91310126insG , CM000677.1:g.91310125_91310126insG	GRCh37
NC_000015.8:g.89111129_89111130insG	NCBI36
NG_007272.1:g.54524_54525insG , LRG_20:g.54524_54525insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.2194-15_2194-14insG MANE Select	ENSP00000347232.3:n.2194-15_2194-14insG
ENST00000648453.1:c.2194-15_2194-14insG	ENSP00000497646.1:n.2194-15_2194-14insG
ENST00000680772.1:c.2194-15_2194-14insG	ENSP00000506117.1:n.2194-15_2194-14insG
ENST00000681142.1:c.2194-15_2194-14insG	ENSP00000506682.1:n.2194-15_2194-14insG
ENST00000355112.7:c.2194-15_2194-14insG	ENSP00000347232.3:n.2194-15_2194-14insG
ENST00000559426.5:n.371-15_371-14insG
ENST00000559724.5:c.*1118-15_*1118-14insG	ENSP00000453359.1:n.*1118-15_*1118-14insG
ENST00000560136.5:n.220-15_220-14insG
ENST00000560509.5:c.2194-15_2194-14insG	ENSP00000454158.1:n.2194-15_2194-14insG
NM_000057.3:c.2194-15_2194-14insG	NP_000048.1:n.2194-15_2194-14insG
NM_001287246.1:c.2194-15_2194-14insG	NP_001274175.1:n.2194-15_2194-14insG
NM_001287247.1:c.2194-15_2194-14insG	NP_001274176.1:n.2194-15_2194-14insG
NM_001287248.1:c.1069-15_1069-14insG	NP_001274177.1:n.1069-15_1069-14insG
XM_006720632.2:c.232-15_232-14insG	XP_006720695.1:n.232-15_232-14insG
XM_011521881.1:c.880-15_880-14insG	XP_011520183.1:n.880-15_880-14insG
XM_011521882.1:c.2194-15_2194-14insG	XP_011520184.1:n.2194-15_2194-14insG
XM_011521881.2:c.880-15_880-14insG	XP_011520183.1:n.880-15_880-14insG
XM_011521882.3:c.2194-15_2194-14insG	XP_011520184.1:n.2194-15_2194-14insG
NM_000057.4:c.2194-15_2194-14insG MANE Select	NP_000048.1:n.2194-15_2194-14insG
NM_001287246.2:c.2194-15_2194-14insG	NP_001274175.1:n.2194-15_2194-14insG
NM_001287247.2:c.2194-15_2194-14insG	NP_001274176.1:n.2194-15_2194-14insG
NM_001287248.2:c.1069-15_1069-14insG	NP_001274177.1:n.1069-15_1069-14insG