Canonical Allele Identifier: CA2195297086

Gene: BLM

Linked Data

• dbSNP Id: rs1896961879

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90793762_90793766del , CM000677.2:g.90793762_90793766del	GRCh38
NC_000015.9:g.91336992_91336996del , CM000677.1:g.91336992_91336996del	GRCh37
NC_000015.8:g.89137996_89138000del	NCBI36
NG_007272.1:g.81391_81395del , LRG_20:g.81391_81395del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.3020-405_3020-401del MANE Select	ENSP00000347232.3:n.3020-405_3020-401del
ENST00000560559.2:n.1593-405_1593-401del
ENST00000648453.1:c.3020-405_3020-401del	ENSP00000497646.1:n.3020-405_3020-401del
ENST00000680772.1:c.3020-405_3020-401del	ENSP00000506117.1:n.3020-405_3020-401del
ENST00000681142.1:c.3020-405_3020-401del	ENSP00000506682.1:n.3020-405_3020-401del
ENST00000355112.7:c.3020-405_3020-401del	ENSP00000347232.3:n.3020-405_3020-401del
ENST00000559724.5:c.*1944-405_*1944-401del	ENSP00000453359.1:n.*1944-405_*1944-401del
ENST00000560136.5:n.1046-405_1046-401del
ENST00000560509.5:c.3020-405_3020-401del	ENSP00000454158.1:n.3020-405_3020-401del
ENST00000560559.1:n.557-405_557-401del
NM_000057.3:c.3020-405_3020-401del	NP_000048.1:n.3020-405_3020-401del
NM_001287246.1:c.3020-405_3020-401del	NP_001274175.1:n.3020-405_3020-401del
NM_001287247.1:c.3020-405_3020-401del	NP_001274176.1:n.3020-405_3020-401del
NM_001287248.1:c.1895-405_1895-401del	NP_001274177.1:n.1895-405_1895-401del
XM_006720632.2:c.1058-405_1058-401del	XP_006720695.1:n.1058-405_1058-401del
XM_011521881.1:c.1706-405_1706-401del	XP_011520183.1:n.1706-405_1706-401del
XM_011521881.2:c.1706-405_1706-401del	XP_011520183.1:n.1706-405_1706-401del
NM_000057.4:c.3020-405_3020-401del MANE Select	NP_000048.1:n.3020-405_3020-401del
NM_001287246.2:c.3020-405_3020-401del	NP_001274175.1:n.3020-405_3020-401del
NM_001287247.2:c.3020-405_3020-401del	NP_001274176.1:n.3020-405_3020-401del
NM_001287248.2:c.1895-405_1895-401del	NP_001274177.1:n.1895-405_1895-401del