Canonical Allele Identifier: CA2195297268

Gene: BLM

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90794167_90794168delinsTG , CM000677.2:g.90794167_90794168delinsTG	GRCh38
NC_000015.9:g.91337397_91337398delinsTG , CM000677.1:g.91337397_91337398delinsTG	GRCh37
NC_000015.8:g.89138401_89138402delinsTG	NCBI36
NG_007272.1:g.81796_81797delinsTG , LRG_20:g.81796_81797delinsTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000355112.8:c.3020_3021delinsTG MANE Select	ENSP00000347232.3:p.Met1007=
ENST00000560559.2:n.1593_1594delinsTG
ENST00000648453.1:c.3020_3021delinsTG	ENSP00000497646.1:p.Met1007=
ENST00000680772.1:c.3020_3021delinsTG	ENSP00000506117.1:p.Met1007=
ENST00000681142.1:c.3020_3021delinsTG	ENSP00000506682.1:p.Met1007=
ENST00000355112.7:c.3020_3021delinsTG	ENSP00000347232.3:p.Met1007=
ENST00000558825.5:n.367_368delinsTG
ENST00000559724.5:c.*1944_*1945delinsTG	ENSP00000453359.1:n.*1944_*1945delinsTG
ENST00000560136.5:n.1046_1047delinsTG
ENST00000560509.5:c.3020_3021delinsTG	ENSP00000454158.1:p.Met1007=
ENST00000560559.1:n.557_558delinsTG
NM_000057.3:c.3020_3021delinsTG	NP_000048.1:p.Met1007=
NM_001287246.1:c.3020_3021delinsTG	NP_001274175.1:p.Met1007=
NM_001287247.1:c.3020_3021delinsTG	NP_001274176.1:p.Met1007=
NM_001287248.1:c.1895_1896delinsTG	NP_001274177.1:p.Met632=
XM_006720632.2:c.1058_1059delinsTG	XP_006720695.1:p.Met353=
XM_011521881.1:c.1706_1707delinsTG	XP_011520183.1:p.Met569=
XM_011521881.2:c.1706_1707delinsTG	XP_011520183.1:p.Met569=
NM_000057.4:c.3020_3021delinsTG MANE Select	NP_000048.1:p.Met1007=
NM_001287246.2:c.3020_3021delinsTG	NP_001274175.1:p.Met1007=
NM_001287247.2:c.3020_3021delinsTG	NP_001274176.1:p.Met1007=
NM_001287248.2:c.1895_1896delinsTG	NP_001274177.1:p.Met632=