Canonical Allele Identifier: CA919616371

Gene: BLM

Linked Data

• dbSNP Id: rs1596235662

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90766890_90766891insGTCATC , CM000677.2:g.90766890_90766891insGTCATC	GRCh38
NC_000015.9:g.91310120_91310121insGTCATC , CM000677.1:g.91310120_91310121insGTCATC	GRCh37
NC_000015.8:g.89111124_89111125insGTCATC	NCBI36
NG_007272.1:g.54519_54520insGTCATC , LRG_20:g.54519_54520insGTCATC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.2194-20_2194-19insGTCATC MANE Select	ENSP00000347232.3:n.2194-20_2194-19insGTCATC
ENST00000648453.1:c.2194-20_2194-19insGTCATC	ENSP00000497646.1:n.2194-20_2194-19insGTCATC
ENST00000680772.1:c.2194-20_2194-19insGTCATC	ENSP00000506117.1:n.2194-20_2194-19insGTCATC
ENST00000681142.1:c.2194-20_2194-19insGTCATC	ENSP00000506682.1:n.2194-20_2194-19insGTCATC
ENST00000355112.7:c.2194-20_2194-19insGTCATC	ENSP00000347232.3:n.2194-20_2194-19insGTCATC
ENST00000559426.5:n.371-20_371-19insGTCATC
ENST00000559724.5:c.*1118-20_*1118-19insGTCATC	ENSP00000453359.1:n.*1118-20_*1118-19insGTCATC
ENST00000560136.5:n.220-20_220-19insGTCATC
ENST00000560509.5:c.2194-20_2194-19insGTCATC	ENSP00000454158.1:n.2194-20_2194-19insGTCATC
NM_000057.3:c.2194-20_2194-19insGTCATC	NP_000048.1:n.2194-20_2194-19insGTCATC
NM_001287246.1:c.2194-20_2194-19insGTCATC	NP_001274175.1:n.2194-20_2194-19insGTCATC
NM_001287247.1:c.2194-20_2194-19insGTCATC	NP_001274176.1:n.2194-20_2194-19insGTCATC
NM_001287248.1:c.1069-20_1069-19insGTCATC	NP_001274177.1:n.1069-20_1069-19insGTCATC
XM_006720632.2:c.232-20_232-19insGTCATC	XP_006720695.1:n.232-20_232-19insGTCATC
XM_011521881.1:c.880-20_880-19insGTCATC	XP_011520183.1:n.880-20_880-19insGTCATC
XM_011521882.1:c.2194-20_2194-19insGTCATC	XP_011520184.1:n.2194-20_2194-19insGTCATC
XM_011521881.2:c.880-20_880-19insGTCATC	XP_011520183.1:n.880-20_880-19insGTCATC
XM_011521882.3:c.2194-20_2194-19insGTCATC	XP_011520184.1:n.2194-20_2194-19insGTCATC
NM_000057.4:c.2194-20_2194-19insGTCATC MANE Select	NP_000048.1:n.2194-20_2194-19insGTCATC
NM_001287246.2:c.2194-20_2194-19insGTCATC	NP_001274175.1:n.2194-20_2194-19insGTCATC
NM_001287247.2:c.2194-20_2194-19insGTCATC	NP_001274176.1:n.2194-20_2194-19insGTCATC
NM_001287248.2:c.1069-20_1069-19insGTCATC	NP_001274177.1:n.1069-20_1069-19insGTCATC