Canonical Allele Identifier: CA344528
Gene: BLM HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.90798202dup , CM000677.2:g.90798202dup GRCh38
NC_000015.9:g.91341432dup , CM000677.1:g.91341432dup GRCh37
NC_000015.8:g.89142436dup NCBI36
NG_007272.1:g.85831dup , LRG_20:g.85831dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000355112.8:c.3223dup MANE Select ENSP00000347232.3:p.Arg1075LysfsTer5
ENST00000560559.2:n.1796dup
ENST00000648453.1:c.3223dup ENSP00000497646.1:p.Arg1075LysfsTer5
ENST00000680772.1:c.3223dup ENSP00000506117.1:p.Arg1075LysfsTer5
ENST00000681142.1:c.3223dup ENSP00000506682.1:p.Arg1075LysfsTer5
ENST00000355112.7:c.3223dup ENSP00000347232.3:p.Arg1075LysfsTer5
ENST00000558825.5:n.570dup
ENST00000559724.5:c.*2147dup ENSP00000453359.1:n.*2147dup
ENST00000560136.5:n.1249dup
ENST00000560509.5:c.3223dup ENSP00000454158.1:p.Arg1075LysfsTer5
NM_000057.3:c.3223dup NP_000048.1:p.Arg1075LysfsTer5
NM_001287246.1:c.3223dup NP_001274175.1:p.Arg1075LysfsTer5
NM_001287247.1:c.3223dup NP_001274176.1:p.Arg1075LysfsTer5
NM_001287248.1:c.2098dup NP_001274177.1:p.Arg700LysfsTer5
XM_006720632.2:c.1261dup XP_006720695.1:p.Arg421LysfsTer5
XM_011521881.1:c.1909dup XP_011520183.1:p.Arg637LysfsTer5
XM_011521881.2:c.1909dup XP_011520183.1:p.Arg637LysfsTer5
NM_000057.4:c.3223dup MANE Select NP_000048.1:p.Arg1075LysfsTer5
NM_001287246.2:c.3223dup NP_001274175.1:p.Arg1075LysfsTer5
NM_001287247.2:c.3223dup NP_001274176.1:p.Arg1075LysfsTer5
NM_001287248.2:c.2098dup NP_001274177.1:p.Arg700LysfsTer5
Search 100 bp 5'
Search 100 bp 3'