Canonical Allele Identifier: CA919616372
Gene: BLM HGNC NCBI

Linked Data

dbSNP Id: rs1596235669

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.90766894_90766895insG , CM000677.2:g.90766894_90766895insG GRCh38
NC_000015.9:g.91310124_91310125insG , CM000677.1:g.91310124_91310125insG GRCh37
NC_000015.8:g.89111128_89111129insG NCBI36
NG_007272.1:g.54523_54524insG , LRG_20:g.54523_54524insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000355112.8:c.2194-16_2194-15insG MANE Select ENSP00000347232.3:n.2194-16_2194-15insG
ENST00000648453.1:c.2194-16_2194-15insG ENSP00000497646.1:n.2194-16_2194-15insG
ENST00000680772.1:c.2194-16_2194-15insG ENSP00000506117.1:n.2194-16_2194-15insG
ENST00000681142.1:c.2194-16_2194-15insG ENSP00000506682.1:n.2194-16_2194-15insG
ENST00000355112.7:c.2194-16_2194-15insG ENSP00000347232.3:n.2194-16_2194-15insG
ENST00000559426.5:n.371-16_371-15insG
ENST00000559724.5:c.*1118-16_*1118-15insG ENSP00000453359.1:n.*1118-16_*1118-15insG
ENST00000560136.5:n.220-16_220-15insG
ENST00000560509.5:c.2194-16_2194-15insG ENSP00000454158.1:n.2194-16_2194-15insG
NM_000057.3:c.2194-16_2194-15insG NP_000048.1:n.2194-16_2194-15insG
NM_001287246.1:c.2194-16_2194-15insG NP_001274175.1:n.2194-16_2194-15insG
NM_001287247.1:c.2194-16_2194-15insG NP_001274176.1:n.2194-16_2194-15insG
NM_001287248.1:c.1069-16_1069-15insG NP_001274177.1:n.1069-16_1069-15insG
XM_006720632.2:c.232-16_232-15insG XP_006720695.1:n.232-16_232-15insG
XM_011521881.1:c.880-16_880-15insG XP_011520183.1:n.880-16_880-15insG
XM_011521882.1:c.2194-16_2194-15insG XP_011520184.1:n.2194-16_2194-15insG
XM_011521881.2:c.880-16_880-15insG XP_011520183.1:n.880-16_880-15insG
XM_011521882.3:c.2194-16_2194-15insG XP_011520184.1:n.2194-16_2194-15insG
NM_000057.4:c.2194-16_2194-15insG MANE Select NP_000048.1:n.2194-16_2194-15insG
NM_001287246.2:c.2194-16_2194-15insG NP_001274175.1:n.2194-16_2194-15insG
NM_001287247.2:c.2194-16_2194-15insG NP_001274176.1:n.2194-16_2194-15insG
NM_001287248.2:c.1069-16_1069-15insG NP_001274177.1:n.1069-16_1069-15insG