Canonical Allele Identifier: CA2195295855
Gene: BLM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.90790903_90790906delinsACTC , CM000677.2:g.90790903_90790906delinsACTC GRCh38
NC_000015.9:g.91334133_91334136delinsACTC , CM000677.1:g.91334133_91334136delinsACTC GRCh37
NC_000015.8:g.89135137_89135140delinsACTC NCBI36
NG_007272.1:g.78532_78535delinsACTC , LRG_20:g.78532_78535delinsACTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000355112.8:c.3019+59_3019+62delinsACTC MANE Select ENSP00000347232.3:n.3019+59_3019+62delinsACTC
ENST00000560559.2:n.1592+59_1592+62delinsACTC
ENST00000648453.1:c.3019+59_3019+62delinsACTC ENSP00000497646.1:n.3019+59_3019+62delinsACTC
ENST00000680772.1:c.3019+59_3019+62delinsACTC ENSP00000506117.1:n.3019+59_3019+62delinsACTC
ENST00000681142.1:c.3019+59_3019+62delinsACTC ENSP00000506682.1:n.3019+59_3019+62delinsACTC
ENST00000355112.7:c.3019+59_3019+62delinsACTC ENSP00000347232.3:n.3019+59_3019+62delinsACTC
ENST00000559724.5:c.*1943+59_*1943+62delinsACTC ENSP00000453359.1:n.*1943+59_*1943+62delinsACTC
ENST00000560136.5:n.1045+59_1045+62delinsACTC
ENST00000560509.5:c.3019+59_3019+62delinsACTC ENSP00000454158.1:n.3019+59_3019+62delinsACTC
ENST00000560559.1:n.556+59_556+62delinsACTC
NM_000057.3:c.3019+59_3019+62delinsACTC NP_000048.1:n.3019+59_3019+62delinsACTC
NM_001287246.1:c.3019+59_3019+62delinsACTC NP_001274175.1:n.3019+59_3019+62delinsACTC
NM_001287247.1:c.3019+59_3019+62delinsACTC NP_001274176.1:n.3019+59_3019+62delinsACTC
NM_001287248.1:c.1894+59_1894+62delinsACTC NP_001274177.1:n.1894+59_1894+62delinsACTC
XM_006720632.2:c.1057+59_1057+62delinsACTC XP_006720695.1:n.1057+59_1057+62delinsACTC
XM_011521881.1:c.1705+59_1705+62delinsACTC XP_011520183.1:n.1705+59_1705+62delinsACTC
XM_011521881.2:c.1705+59_1705+62delinsACTC XP_011520183.1:n.1705+59_1705+62delinsACTC
NM_000057.4:c.3019+59_3019+62delinsACTC MANE Select NP_000048.1:n.3019+59_3019+62delinsACTC
NM_001287246.2:c.3019+59_3019+62delinsACTC NP_001274175.1:n.3019+59_3019+62delinsACTC
NM_001287247.2:c.3019+59_3019+62delinsACTC NP_001274176.1:n.3019+59_3019+62delinsACTC
NM_001287248.2:c.1894+59_1894+62delinsACTC NP_001274177.1:n.1894+59_1894+62delinsACTC