Canonical Allele Identifier: CA2731538839

Gene: BLM

Linked Data

• dbSNP Id: rs2151184841

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90790898_90790899insTAGAAAAGCAGGCA , CM000677.2:g.90790898_90790899insTAGAAAAGCAGGCA	GRCh38
NC_000015.9:g.91334128_91334129insTAGAAAAGCAGGCA , CM000677.1:g.91334128_91334129insTAGAAAAGCAGGCA	GRCh37
NC_000015.8:g.89135132_89135133insTAGAAAAGCAGGCA	NCBI36
NG_007272.1:g.78527_78528insTAGAAAAGCAGGCA , LRG_20:g.78527_78528insTAGAAAAGCAGGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.3019+54_3019+55insTAGAAAAGCAGGCA MANE Select	ENSP00000347232.3:n.3019+54_3019+55insTAGAAAAGCAGGCA
ENST00000560559.2:n.1592+54_1592+55insTAGAAAAGCAGGCA
ENST00000648453.1:c.3019+54_3019+55insTAGAAAAGCAGGCA	ENSP00000497646.1:n.3019+54_3019+55insTAGAAAAGCAGGCA
ENST00000680772.1:c.3019+54_3019+55insTAGAAAAGCAGGCA	ENSP00000506117.1:n.3019+54_3019+55insTAGAAAAGCAGGCA
ENST00000681142.1:c.3019+54_3019+55insTAGAAAAGCAGGCA	ENSP00000506682.1:n.3019+54_3019+55insTAGAAAAGCAGGCA
ENST00000355112.7:c.3019+54_3019+55insTAGAAAAGCAGGCA	ENSP00000347232.3:n.3019+54_3019+55insTAGAAAAGCAGGCA
ENST00000559724.5:c.*1943+54_*1943+55insTAGAAAAGCAGGCA	ENSP00000453359.1:n.*1943+54_*1943+55insTAGAAAAGCAGGCA
ENST00000560136.5:n.1045+54_1045+55insTAGAAAAGCAGGCA
ENST00000560509.5:c.3019+54_3019+55insTAGAAAAGCAGGCA	ENSP00000454158.1:n.3019+54_3019+55insTAGAAAAGCAGGCA
ENST00000560559.1:n.556+54_556+55insTAGAAAAGCAGGCA
NM_000057.3:c.3019+54_3019+55insTAGAAAAGCAGGCA	NP_000048.1:n.3019+54_3019+55insTAGAAAAGCAGGCA
NM_001287246.1:c.3019+54_3019+55insTAGAAAAGCAGGCA	NP_001274175.1:n.3019+54_3019+55insTAGAAAAGCAGGCA
NM_001287247.1:c.3019+54_3019+55insTAGAAAAGCAGGCA	NP_001274176.1:n.3019+54_3019+55insTAGAAAAGCAGGCA
NM_001287248.1:c.1894+54_1894+55insTAGAAAAGCAGGCA	NP_001274177.1:n.1894+54_1894+55insTAGAAAAGCAGGCA
XM_006720632.2:c.1057+54_1057+55insTAGAAAAGCAGGCA	XP_006720695.1:n.1057+54_1057+55insTAGAAAAGCAGGCA
XM_011521881.1:c.1705+54_1705+55insTAGAAAAGCAGGCA	XP_011520183.1:n.1705+54_1705+55insTAGAAAAGCAGGCA
XM_011521881.2:c.1705+54_1705+55insTAGAAAAGCAGGCA	XP_011520183.1:n.1705+54_1705+55insTAGAAAAGCAGGCA
NM_000057.4:c.3019+54_3019+55insTAGAAAAGCAGGCA MANE Select	NP_000048.1:n.3019+54_3019+55insTAGAAAAGCAGGCA
NM_001287246.2:c.3019+54_3019+55insTAGAAAAGCAGGCA	NP_001274175.1:n.3019+54_3019+55insTAGAAAAGCAGGCA
NM_001287247.2:c.3019+54_3019+55insTAGAAAAGCAGGCA	NP_001274176.1:n.3019+54_3019+55insTAGAAAAGCAGGCA
NM_001287248.2:c.1894+54_1894+55insTAGAAAAGCAGGCA	NP_001274177.1:n.1894+54_1894+55insTAGAAAAGCAGGCA