Canonical Allele Identifier: CA915946154

Gene: BLM

Linked Data

• ClinVar Variation Id: 644219
• ClinVar RCV Id: RCV000798090
• dbSNP Id: rs1596235791

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90766924_90766929delinsGATATGT , CM000677.2:g.90766924_90766929delinsGATATGT	GRCh38
NC_000015.9:g.91310154_91310159delinsGATATGT , CM000677.1:g.91310154_91310159delinsGATATGT	GRCh37
NC_000015.8:g.89111158_89111163delinsGATATGT	NCBI36
NG_007272.1:g.54553_54558delinsGATATGT , LRG_20:g.54553_54558delinsGATATGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000355112.8:c.2208_2213delinsGATATGT MANE Select	ENSP00000347232.3:p.Tyr736Ter
ENST00000648453.1:c.2208_2213delinsGATATGT	ENSP00000497646.1:p.Tyr736Ter
ENST00000680772.1:c.2208_2213delinsGATATGT	ENSP00000506117.1:p.Tyr736Ter
ENST00000681142.1:c.2208_2213delinsGATATGT	ENSP00000506682.1:p.Tyr736Ter
ENST00000355112.7:c.2208_2213delinsGATATGT	ENSP00000347232.3:p.Tyr736Ter
ENST00000559426.5:n.385_390delinsGATATGT
ENST00000559724.5:c.*1132_*1137delinsGATATGT	ENSP00000453359.1:n.*1132_*1137delinsGATA...
ENST00000560136.5:n.234_239delinsGATATGT
ENST00000560509.5:c.2208_2213delinsGATATGT	ENSP00000454158.1:p.Tyr736Ter
NM_000057.3:c.2208_2213delinsGATATGT	NP_000048.1:p.Tyr736Ter
NM_001287246.1:c.2208_2213delinsGATATGT	NP_001274175.1:p.Tyr736Ter
NM_001287247.1:c.2208_2213delinsGATATGT	NP_001274176.1:p.Tyr736Ter
NM_001287248.1:c.1083_1088delinsGATATGT	NP_001274177.1:p.Tyr361Ter
XM_006720632.2:c.246_251delinsGATATGT	XP_006720695.1:p.Tyr82Ter
XM_011521881.1:c.894_899delinsGATATGT	XP_011520183.1:p.Tyr298Ter
XM_011521882.1:c.2208_2213delinsGATATGT	XP_011520184.1:p.Tyr736Ter
XM_011521881.2:c.894_899delinsGATATGT	XP_011520183.1:p.Tyr298Ter
XM_011521882.3:c.2208_2213delinsGATATGT	XP_011520184.1:p.Tyr736Ter
NM_000057.4:c.2208_2213delinsGATATGT MANE Select	NP_000048.1:p.Tyr736Ter
NM_001287246.2:c.2208_2213delinsGATATGT	NP_001274175.1:p.Tyr736Ter
NM_001287247.2:c.2208_2213delinsGATATGT	NP_001274176.1:p.Tyr736Ter
NM_001287248.2:c.1083_1088delinsGATATGT	NP_001274177.1:p.Tyr361Ter