Canonical Allele Identifier: CA2195283229

Gene: BLM

Linked Data

• dbSNP Id: rs1896152781

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90767053_90767057del , CM000677.2:g.90767053_90767057del	GRCh38
NC_000015.9:g.91310283_91310287del , CM000677.1:g.91310283_91310287del	GRCh37
NC_000015.8:g.89111287_89111291del	NCBI36
NG_007272.1:g.54682_54686del , LRG_20:g.54682_54686del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.2307+30_2307+34del MANE Select	ENSP00000347232.3:n.2307+30_2307+34del
ENST00000648453.1:c.2307+30_2307+34del	ENSP00000497646.1:n.2307+30_2307+34del
ENST00000680772.1:c.2307+30_2307+34del	ENSP00000506117.1:n.2307+30_2307+34del
ENST00000681142.1:c.2307+30_2307+34del	ENSP00000506682.1:n.2307+30_2307+34del
ENST00000355112.7:c.2307+30_2307+34del	ENSP00000347232.3:n.2307+30_2307+34del
ENST00000559426.5:n.484+30_484+34del
ENST00000559724.5:c.*1231+30_*1231+34del	ENSP00000453359.1:n.*1231+30_*1231+34del
ENST00000560136.5:n.333+30_333+34del
ENST00000560509.5:c.2307+30_2307+34del	ENSP00000454158.1:n.2307+30_2307+34del
NM_000057.3:c.2307+30_2307+34del	NP_000048.1:n.2307+30_2307+34del
NM_001287246.1:c.2307+30_2307+34del	NP_001274175.1:n.2307+30_2307+34del
NM_001287247.1:c.2307+30_2307+34del	NP_001274176.1:n.2307+30_2307+34del
NM_001287248.1:c.1182+30_1182+34del	NP_001274177.1:n.1182+30_1182+34del
XM_006720632.2:c.345+30_345+34del	XP_006720695.1:n.345+30_345+34del
XM_011521881.1:c.993+30_993+34del	XP_011520183.1:n.993+30_993+34del
XM_011521882.1:c.2307+30_2307+34del	XP_011520184.1:n.2307+30_2307+34del
XM_011521881.2:c.993+30_993+34del	XP_011520183.1:n.993+30_993+34del
XM_011521882.3:c.2307+30_2307+34del	XP_011520184.1:n.2307+30_2307+34del
NM_000057.4:c.2307+30_2307+34del MANE Select	NP_000048.1:n.2307+30_2307+34del
NM_001287246.2:c.2307+30_2307+34del	NP_001274175.1:n.2307+30_2307+34del
NM_001287247.2:c.2307+30_2307+34del	NP_001274176.1:n.2307+30_2307+34del
NM_001287248.2:c.1182+30_1182+34del	NP_001274177.1:n.1182+30_1182+34del