Canonical Allele Identifier: CA2195282612

Gene: BLM

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90766579_90766580delinsCA , CM000677.2:g.90766579_90766580delinsCA	GRCh38
NC_000015.9:g.91309809_91309810delinsCA , CM000677.1:g.91309809_91309810delinsCA	GRCh37
NC_000015.8:g.89110813_89110814delinsCA	NCBI36
NG_007272.1:g.54208_54209delinsCA , LRG_20:g.54208_54209delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.2194-331_2194-330delinsCA MANE Select	ENSP00000347232.3:n.2194-331_2194-330delinsCA
ENST00000648453.1:c.2194-331_2194-330delinsCA	ENSP00000497646.1:n.2194-331_2194-330delinsCA
ENST00000680772.1:c.2194-331_2194-330delinsCA	ENSP00000506117.1:n.2194-331_2194-330delinsCA
ENST00000681142.1:c.2194-331_2194-330delinsCA	ENSP00000506682.1:n.2194-331_2194-330delinsCA
ENST00000355112.7:c.2194-331_2194-330delinsCA	ENSP00000347232.3:n.2194-331_2194-330delinsCA
ENST00000559426.5:n.371-331_371-330delinsCA
ENST00000559724.5:c.*1118-331_*1118-330delinsCA	ENSP00000453359.1:n.*1118-331_*1118-330delinsCA
ENST00000560136.5:n.220-331_220-330delinsCA
ENST00000560509.5:c.2194-331_2194-330delinsCA	ENSP00000454158.1:n.2194-331_2194-330delinsCA
NM_000057.3:c.2194-331_2194-330delinsCA	NP_000048.1:n.2194-331_2194-330delinsCA
NM_001287246.1:c.2194-331_2194-330delinsCA	NP_001274175.1:n.2194-331_2194-330delinsCA
NM_001287247.1:c.2194-331_2194-330delinsCA	NP_001274176.1:n.2194-331_2194-330delinsCA
NM_001287248.1:c.1069-331_1069-330delinsCA	NP_001274177.1:n.1069-331_1069-330delinsCA
XM_006720632.2:c.232-331_232-330delinsCA	XP_006720695.1:n.232-331_232-330delinsCA
XM_011521881.1:c.880-331_880-330delinsCA	XP_011520183.1:n.880-331_880-330delinsCA
XM_011521882.1:c.2194-331_2194-330delinsCA	XP_011520184.1:n.2194-331_2194-330delinsCA
XM_011521881.2:c.880-331_880-330delinsCA	XP_011520183.1:n.880-331_880-330delinsCA
XM_011521882.3:c.2194-331_2194-330delinsCA	XP_011520184.1:n.2194-331_2194-330delinsCA
NM_000057.4:c.2194-331_2194-330delinsCA MANE Select	NP_000048.1:n.2194-331_2194-330delinsCA
NM_001287246.2:c.2194-331_2194-330delinsCA	NP_001274175.1:n.2194-331_2194-330delinsCA
NM_001287247.2:c.2194-331_2194-330delinsCA	NP_001274176.1:n.2194-331_2194-330delinsCA
NM_001287248.2:c.1069-331_1069-330delinsCA	NP_001274177.1:n.1069-331_1069-330delinsCA