Canonical Allele Identifier: CA393846617
Gene: BLM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.90790839_90790849del , CM000677.2:g.90790839_90790849del GRCh38
NC_000015.9:g.91334069_91334079del , CM000677.1:g.91334069_91334079del GRCh37
NC_000015.8:g.89135073_89135083del NCBI36
NG_007272.1:g.78468_78478del , LRG_20:g.78468_78478del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355112.8:c.3014_3019+5del
ENST00000560559.2:n.1587_1592+5del
ENST00000648453.1:c.3014_3019+5del
ENST00000680772.1:c.3014_3019+5del
ENST00000681142.1:c.3014_3019+5del
ENST00000355112.7:c.3014_3019+5del
ENST00000559724.5:c.*1938_*1943+5del
ENST00000560136.5:n.1040_1045+5del
ENST00000560509.5:c.3014_3019+5del
ENST00000560559.1:n.551_556+5del
NM_000057.3:c.3014_3019+5del
NM_001287246.1:c.3014_3019+5del
NM_001287247.1:c.3014_3019+5del
NM_001287248.1:c.1889_1894+5del
XM_006720632.2:c.1052_1057+5del
XM_011521881.1:c.1700_1705+5del
XM_011521881.2:c.1700_1705+5del
NM_000057.4:c.3014_3019+5del
NM_001287246.2:c.3014_3019+5del
NM_001287247.2:c.3014_3019+5del
NM_001287248.2:c.1889_1894+5del