Canonical Allele Identifier: CA2630382170

Gene: BLM

Linked Data

• gnomAD v4: 15-90794060-TTTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90794063_90794065del , CM000677.2:g.90794063_90794065del	GRCh38
NC_000015.9:g.91337293_91337295del , CM000677.1:g.91337293_91337295del	GRCh37
NC_000015.8:g.89138297_89138299del	NCBI36
NG_007272.1:g.81692_81694del , LRG_20:g.81692_81694del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.3020-104_3020-102del MANE Select	ENSP00000347232.3:n.3020-104_3020-102del
ENST00000560559.2:n.1593-104_1593-102del
ENST00000648453.1:c.3020-104_3020-102del	ENSP00000497646.1:n.3020-104_3020-102del
ENST00000680772.1:c.3020-104_3020-102del	ENSP00000506117.1:n.3020-104_3020-102del
ENST00000681142.1:c.3020-104_3020-102del	ENSP00000506682.1:n.3020-104_3020-102del
ENST00000355112.7:c.3020-104_3020-102del	ENSP00000347232.3:n.3020-104_3020-102del
ENST00000558825.5:n.263_265del
ENST00000559724.5:c.*1944-104_*1944-102del	ENSP00000453359.1:n.*1944-104_*1944-102del
ENST00000560136.5:n.1046-104_1046-102del
ENST00000560509.5:c.3020-104_3020-102del	ENSP00000454158.1:n.3020-104_3020-102del
ENST00000560559.1:n.557-104_557-102del
NM_000057.3:c.3020-104_3020-102del	NP_000048.1:n.3020-104_3020-102del
NM_001287246.1:c.3020-104_3020-102del	NP_001274175.1:n.3020-104_3020-102del
NM_001287247.1:c.3020-104_3020-102del	NP_001274176.1:n.3020-104_3020-102del
NM_001287248.1:c.1895-104_1895-102del	NP_001274177.1:n.1895-104_1895-102del
XM_006720632.2:c.1058-104_1058-102del	XP_006720695.1:n.1058-104_1058-102del
XM_011521881.1:c.1706-104_1706-102del	XP_011520183.1:n.1706-104_1706-102del
XM_011521881.2:c.1706-104_1706-102del	XP_011520183.1:n.1706-104_1706-102del
NM_000057.4:c.3020-104_3020-102del MANE Select	NP_000048.1:n.3020-104_3020-102del
NM_001287246.2:c.3020-104_3020-102del	NP_001274175.1:n.3020-104_3020-102del
NM_001287247.2:c.3020-104_3020-102del	NP_001274176.1:n.3020-104_3020-102del
NM_001287248.2:c.1895-104_1895-102del	NP_001274177.1:n.1895-104_1895-102del