Canonical Allele Identifier: CA2573054123

Gene: BLM

Linked Data

• dbSNP Id: rs2151187284

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90794249_90794250del , CM000677.2:g.90794249_90794250del	GRCh38
NC_000015.9:g.91337479_91337480del , CM000677.1:g.91337479_91337480del	GRCh37
NC_000015.8:g.89138483_89138484del	NCBI36
NG_007272.1:g.81878_81879del , LRG_20:g.81878_81879del

Transcript Alleles

HGVS	Amino-acid change
ENST00000355112.8:c.3102_3103del MANE Select	ENSP00000347232.3:p.Glu1035MetfsTer12
ENST00000560559.2:n.1675_1676del
ENST00000648453.1:c.3102_3103del	ENSP00000497646.1:p.Glu1035MetfsTer12
ENST00000680772.1:c.3102_3103del	ENSP00000506117.1:p.Glu1035MetfsTer12
ENST00000681142.1:c.3102_3103del	ENSP00000506682.1:p.Glu1035MetfsTer12
ENST00000355112.7:c.3102_3103del	ENSP00000347232.3:p.Glu1035MetfsTer12
ENST00000558825.5:n.449_450del
ENST00000559724.5:c.*2026_*2027del	ENSP00000453359.1:n.*2026_*2027del
ENST00000560136.5:n.1128_1129del
ENST00000560509.5:c.3102_3103del	ENSP00000454158.1:p.Glu1035MetfsTer12
ENST00000560559.1:n.639_640del
NM_000057.3:c.3102_3103del	NP_000048.1:p.Glu1035MetfsTer12
NM_001287246.1:c.3102_3103del	NP_001274175.1:p.Glu1035MetfsTer12
NM_001287247.1:c.3102_3103del	NP_001274176.1:p.Glu1035MetfsTer12
NM_001287248.1:c.1977_1978del	NP_001274177.1:p.Glu660MetfsTer12
XM_006720632.2:c.1140_1141del	XP_006720695.1:p.Glu381MetfsTer12
XM_011521881.1:c.1788_1789del	XP_011520183.1:p.Glu597MetfsTer12
XM_011521881.2:c.1788_1789del	XP_011520183.1:p.Glu597MetfsTer12
NM_000057.4:c.3102_3103del MANE Select	NP_000048.1:p.Glu1035MetfsTer12
NM_001287246.2:c.3102_3103del	NP_001274175.1:p.Glu1035MetfsTer12
NM_001287247.2:c.3102_3103del	NP_001274176.1:p.Glu1035MetfsTer12
NM_001287248.2:c.1977_1978del	NP_001274177.1:p.Glu660MetfsTer12