Canonical Allele Identifier: CA2582473459
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105320_11105323del , CM000681.2:g.11105320_11105323del GRCh38
NC_000019.9:g.11215996_11215999del , CM000681.1:g.11215996_11215999del GRCh37
NC_000019.8:g.11076996_11076999del NCBI36
NG_009060.1:g.20940_20943del , LRG_274:g.20940_20943del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.672_675del ENSP00000252444.6:p.Asp225ArgfsTer?
ENST00000559340.2:c.414_417del ENSP00000453696.2:p.Asp139ArgfsTer?
ENST00000560467.2:c.414_417del ENSP00000453513.2:p.Asp139ArgfsTer?
ENST00000558518.6:c.414_417del MANE Select ENSP00000454071.1:p.Asp139ArgfsTer?
ENST00000252444.9:c.668_671del
ENST00000455727.6:c.314-2072_314-2069del ENSP00000397829.2:n.314-2072_314-2069del
ENST00000535915.5:c.291_294del ENSP00000440520.1:p.Asp98ArgfsTer?
ENST00000545707.5:c.314-1245_314-1242del ENSP00000437639.1:n.314-1245_314-1242del
ENST00000557933.5:c.414_417del ENSP00000453557.1:p.Asp139ArgfsTer?
ENST00000558013.5:c.414_417del ENSP00000453346.1:p.Asp139ArgfsTer?
ENST00000558518.5:c.414_417del ENSP00000454071.1:p.Asp139ArgfsTer?
ENST00000560467.1:c.14_17del
NM_000527.4:c.414_417del , LRG_274t1:c.414_417del NP_000518.1:p.Asp139ArgfsTer?
NM_001195798.1:c.414_417del NP_001182727.1:p.Asp139ArgfsTer?
NM_001195799.1:c.291_294del NP_001182728.1:p.Asp98ArgfsTer?
NM_001195800.1:c.314-2072_314-2069del NP_001182729.1:n.314-2072_314-2069del
NM_001195803.1:c.314-1245_314-1242del NP_001182732.1:n.314-1245_314-1242del
XM_011528010.1:c.414_417del XP_011526312.1:p.Asp139ArgfsTer?
XM_011528011.1:c.314-1245_314-1242del XP_011526313.1:n.314-1245_314-1242del
XR_244074.2:n.564_567del
XM_011528010.2:c.414_417del XP_011526312.1:p.Asp139ArgfsTer?
XR_001753685.2:n.531_534del
XR_001753686.2:n.531_534del
NM_000527.5:c.414_417del MANE Select NP_000518.1:p.Asp139ArgfsTer?
NM_001195798.2:c.414_417del NP_001182727.1:p.Asp139ArgfsTer?
NM_001195799.2:c.291_294del NP_001182728.1:p.Asp98ArgfsTer?
NM_001195800.2:c.314-2072_314-2069del NP_001182729.1:n.314-2072_314-2069del
NM_001195803.2:c.314-1245_314-1242del NP_001182732.1:n.314-1245_314-1242del