Canonical Allele Identifier: CA2195297266
Gene: BLM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.90794160_90794162delinsCTT , CM000677.2:g.90794160_90794162delinsCTT GRCh38
NC_000015.9:g.91337390_91337392delinsCTT , CM000677.1:g.91337390_91337392delinsCTT GRCh37
NC_000015.8:g.89138394_89138396delinsCTT NCBI36
NG_007272.1:g.81789_81791delinsCTT , LRG_20:g.81789_81791delinsCTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000355112.8:c.3020-7_3020-5delinsCTT MANE Select ENSP00000347232.3:n.3020-7_3020-5delinsCTT
ENST00000560559.2:n.1593-7_1593-5delinsCTT
ENST00000648453.1:c.3020-7_3020-5delinsCTT ENSP00000497646.1:n.3020-7_3020-5delinsCTT
ENST00000680772.1:c.3020-7_3020-5delinsCTT ENSP00000506117.1:n.3020-7_3020-5delinsCTT
ENST00000681142.1:c.3020-7_3020-5delinsCTT ENSP00000506682.1:n.3020-7_3020-5delinsCTT
ENST00000355112.7:c.3020-7_3020-5delinsCTT ENSP00000347232.3:n.3020-7_3020-5delinsCTT
ENST00000558825.5:n.360_362delinsCTT
ENST00000559724.5:c.*1944-7_*1944-5delinsCTT ENSP00000453359.1:n.*1944-7_*1944-5delinsCTT
ENST00000560136.5:n.1046-7_1046-5delinsCTT
ENST00000560509.5:c.3020-7_3020-5delinsCTT ENSP00000454158.1:n.3020-7_3020-5delinsCTT
ENST00000560559.1:n.557-7_557-5delinsCTT
NM_000057.3:c.3020-7_3020-5delinsCTT NP_000048.1:n.3020-7_3020-5delinsCTT
NM_001287246.1:c.3020-7_3020-5delinsCTT NP_001274175.1:n.3020-7_3020-5delinsCTT
NM_001287247.1:c.3020-7_3020-5delinsCTT NP_001274176.1:n.3020-7_3020-5delinsCTT
NM_001287248.1:c.1895-7_1895-5delinsCTT NP_001274177.1:n.1895-7_1895-5delinsCTT
XM_006720632.2:c.1058-7_1058-5delinsCTT XP_006720695.1:n.1058-7_1058-5delinsCTT
XM_011521881.1:c.1706-7_1706-5delinsCTT XP_011520183.1:n.1706-7_1706-5delinsCTT
XM_011521881.2:c.1706-7_1706-5delinsCTT XP_011520183.1:n.1706-7_1706-5delinsCTT
NM_000057.4:c.3020-7_3020-5delinsCTT MANE Select NP_000048.1:n.3020-7_3020-5delinsCTT
NM_001287246.2:c.3020-7_3020-5delinsCTT NP_001274175.1:n.3020-7_3020-5delinsCTT
NM_001287247.2:c.3020-7_3020-5delinsCTT NP_001274176.1:n.3020-7_3020-5delinsCTT
NM_001287248.2:c.1895-7_1895-5delinsCTT NP_001274177.1:n.1895-7_1895-5delinsCTT