Canonical Allele Identifier: CA2520233878

Gene: BLM

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90793763_90793766del , CM000677.2:g.90793763_90793766del	GRCh38
NC_000015.9:g.91336993_91336996del , CM000677.1:g.91336993_91336996del	GRCh37
NC_000015.8:g.89137997_89138000del	NCBI36
NG_007272.1:g.81392_81395del , LRG_20:g.81392_81395del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.3020-404_3020-401del MANE Select	ENSP00000347232.3:n.3020-404_3020-401del
ENST00000560559.2:n.1593-404_1593-401del
ENST00000648453.1:c.3020-404_3020-401del	ENSP00000497646.1:n.3020-404_3020-401del
ENST00000680772.1:c.3020-404_3020-401del	ENSP00000506117.1:n.3020-404_3020-401del
ENST00000681142.1:c.3020-404_3020-401del	ENSP00000506682.1:n.3020-404_3020-401del
ENST00000355112.7:c.3020-404_3020-401del	ENSP00000347232.3:n.3020-404_3020-401del
ENST00000559724.5:c.*1944-404_*1944-401del	ENSP00000453359.1:n.*1944-404_*1944-401del
ENST00000560136.5:n.1046-404_1046-401del
ENST00000560509.5:c.3020-404_3020-401del	ENSP00000454158.1:n.3020-404_3020-401del
ENST00000560559.1:n.557-404_557-401del
NM_000057.3:c.3020-404_3020-401del	NP_000048.1:n.3020-404_3020-401del
NM_001287246.1:c.3020-404_3020-401del	NP_001274175.1:n.3020-404_3020-401del
NM_001287247.1:c.3020-404_3020-401del	NP_001274176.1:n.3020-404_3020-401del
NM_001287248.1:c.1895-404_1895-401del	NP_001274177.1:n.1895-404_1895-401del
XM_006720632.2:c.1058-404_1058-401del	XP_006720695.1:n.1058-404_1058-401del
XM_011521881.1:c.1706-404_1706-401del	XP_011520183.1:n.1706-404_1706-401del
XM_011521881.2:c.1706-404_1706-401del	XP_011520183.1:n.1706-404_1706-401del
NM_000057.4:c.3020-404_3020-401del MANE Select	NP_000048.1:n.3020-404_3020-401del
NM_001287246.2:c.3020-404_3020-401del	NP_001274175.1:n.3020-404_3020-401del
NM_001287247.2:c.3020-404_3020-401del	NP_001274176.1:n.3020-404_3020-401del
NM_001287248.2:c.1895-404_1895-401del	NP_001274177.1:n.1895-404_1895-401del