Canonical Allele Identifier: CA2580613321

Gene: BLM

Linked Data

• ClinVar Variation Id: 2503995
• ClinVar RCV Id: RCV003230986

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90766924_90766928delinsGATTC , CM000677.2:g.90766924_90766928delinsGATTC	GRCh38
NC_000015.9:g.91310154_91310158delinsGATTC , CM000677.1:g.91310154_91310158delinsGATTC	GRCh37
NC_000015.8:g.89111158_89111162delinsGATTC	NCBI36
NG_007272.1:g.54553_54557delinsGATTC , LRG_20:g.54553_54557delinsGATTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000355112.8:c.2208_2212delinsGATTC MANE Select	ENSP00000347232.3:p.Tyr736Ter
ENST00000648453.1:c.2208_2212delinsGATTC	ENSP00000497646.1:p.Tyr736Ter
ENST00000680772.1:c.2208_2212delinsGATTC	ENSP00000506117.1:p.Tyr736Ter
ENST00000681142.1:c.2208_2212delinsGATTC	ENSP00000506682.1:p.Tyr736Ter
ENST00000355112.7:c.2208_2212delinsGATTC	ENSP00000347232.3:p.Tyr736Ter
ENST00000559426.5:n.385_389delinsGATTC
ENST00000559724.5:c.*1132_*1136delinsGATTC	ENSP00000453359.1:n.*1132_*1136delinsGATT...
ENST00000560136.5:n.234_238delinsGATTC
ENST00000560509.5:c.2208_2212delinsGATTC	ENSP00000454158.1:p.Tyr736Ter
NM_000057.3:c.2208_2212delinsGATTC	NP_000048.1:p.Tyr736Ter
NM_001287246.1:c.2208_2212delinsGATTC	NP_001274175.1:p.Tyr736Ter
NM_001287247.1:c.2208_2212delinsGATTC	NP_001274176.1:p.Tyr736Ter
NM_001287248.1:c.1083_1087delinsGATTC	NP_001274177.1:p.Tyr361Ter
XM_006720632.2:c.246_250delinsGATTC	XP_006720695.1:p.Tyr82Ter
XM_011521881.1:c.894_898delinsGATTC	XP_011520183.1:p.Tyr298Ter
XM_011521882.1:c.2208_2212delinsGATTC	XP_011520184.1:p.Tyr736Ter
XM_011521881.2:c.894_898delinsGATTC	XP_011520183.1:p.Tyr298Ter
XM_011521882.3:c.2208_2212delinsGATTC	XP_011520184.1:p.Tyr736Ter
NM_000057.4:c.2208_2212delinsGATTC MANE Select	NP_000048.1:p.Tyr736Ter
NM_001287246.2:c.2208_2212delinsGATTC	NP_001274175.1:p.Tyr736Ter
NM_001287247.2:c.2208_2212delinsGATTC	NP_001274176.1:p.Tyr736Ter
NM_001287248.2:c.1083_1087delinsGATTC	NP_001274177.1:p.Tyr361Ter