Canonical Allele Identifier: CA344508
Gene: BLM HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.90769537_90769538del , CM000677.2:g.90769537_90769538del GRCh38
NC_000015.9:g.91312767_91312768del , CM000677.1:g.91312767_91312768del GRCh37
NC_000015.8:g.89113771_89113772del NCBI36
NG_007272.1:g.57166_57167del , LRG_20:g.57166_57167del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355112.8:c.2506_2507del MANE Select ENSP00000347232.3:p.Arg836GlyfsTer18
ENST00000648453.1:c.2506_2507del ENSP00000497646.1:p.Arg836GlyfsTer18
ENST00000680772.1:c.2506_2507del ENSP00000506117.1:p.Arg836GlyfsTer18
ENST00000681142.1:c.2506_2507del ENSP00000506682.1:p.Arg836GlyfsTer18
ENST00000355112.7:c.2506_2507del ENSP00000347232.3:p.Arg836GlyfsTer18
ENST00000559724.5:c.*1430_*1431del ENSP00000453359.1:n.*1430_*1431del
ENST00000560136.5:n.532_533del
ENST00000560509.5:c.2506_2507del ENSP00000454158.1:p.Arg836GlyfsTer18
NM_000057.3:c.2506_2507del NP_000048.1:p.Arg836GlyfsTer18
NM_001287246.1:c.2506_2507del NP_001274175.1:p.Arg836GlyfsTer18
NM_001287247.1:c.2506_2507del NP_001274176.1:p.Arg836GlyfsTer18
NM_001287248.1:c.1381_1382del NP_001274177.1:p.Arg461GlyfsTer18
XM_006720632.2:c.544_545del XP_006720695.1:p.Arg182GlyfsTer18
XM_011521881.1:c.1192_1193del XP_011520183.1:p.Arg398GlyfsTer18
XM_011521882.1:c.2506_2507del XP_011520184.1:p.Arg836GlyfsTer25
XM_011521881.2:c.1192_1193del XP_011520183.1:p.Arg398GlyfsTer18
XM_011521882.3:c.2506_2507del XP_011520184.1:p.Arg836GlyfsTer25
NM_000057.4:c.2506_2507del MANE Select NP_000048.1:p.Arg836GlyfsTer18
NM_001287246.2:c.2506_2507del NP_001274175.1:p.Arg836GlyfsTer18
NM_001287247.2:c.2506_2507del NP_001274176.1:p.Arg836GlyfsTer18
NM_001287248.2:c.1381_1382del NP_001274177.1:p.Arg461GlyfsTer18
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