Canonical Allele Identifier: CA2695223206
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105557_11105568del , CM000681.2:g.11105557_11105568del GRCh38
NC_000019.9:g.11216233_11216244del , CM000681.1:g.11216233_11216244del GRCh37
NC_000019.8:g.11077233_11077244del NCBI36
NG_009060.1:g.21177_21188del , LRG_274:g.21177_21188del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.909_920del ENSP00000252444.6:p.Gly304_Asp307del
ENST00000559340.2:c.651_662del ENSP00000453696.2:p.Gly218_Asp221del
ENST00000560467.2:c.651_662del ENSP00000453513.2:p.Gly218_Asp221del
ENST00000558518.6:c.651_662del MANE Select ENSP00000454071.1:p.Gly218_Asp221del
ENST00000252444.9:c.905_916del
ENST00000455727.6:c.314-1835_314-1824del ENSP00000397829.2:n.314-1835_314-1824del
ENST00000535915.5:c.528_539del ENSP00000440520.1:p.Gly177_Asp180del
ENST00000545707.5:c.314-1008_314-997del ENSP00000437639.1:n.314-1008_314-997del
ENST00000557933.5:c.651_662del ENSP00000453557.1:p.Gly218_Asp221del
ENST00000558013.5:c.651_662del ENSP00000453346.1:p.Gly218_Asp221del
ENST00000558518.5:c.651_662del ENSP00000454071.1:p.Gly218_Asp221del
ENST00000560467.1:c.251_262del
NM_000527.4:c.651_662del , LRG_274t1:c.651_662del NP_000518.1:p.Gly218_Asp221del
NM_001195798.1:c.651_662del NP_001182727.1:p.Gly218_Asp221del
NM_001195799.1:c.528_539del NP_001182728.1:p.Gly177_Asp180del
NM_001195800.1:c.314-1835_314-1824del NP_001182729.1:n.314-1835_314-1824del
NM_001195803.1:c.314-1008_314-997del NP_001182732.1:n.314-1008_314-997del
XM_011528010.1:c.651_662del XP_011526312.1:p.Gly218_Asp221del
XM_011528011.1:c.314-1008_314-997del XP_011526313.1:n.314-1008_314-997del
XR_244074.2:n.801_812del
XM_011528010.2:c.651_662del XP_011526312.1:p.Gly218_Asp221del
XR_001753685.2:n.768_779del
XR_001753686.2:n.768_779del
NM_000527.5:c.651_662del MANE Select NP_000518.1:p.Gly218_Asp221del
NM_001195798.2:c.651_662del NP_001182727.1:p.Gly218_Asp221del
NM_001195799.2:c.528_539del NP_001182728.1:p.Gly177_Asp180del
NM_001195800.2:c.314-1835_314-1824del NP_001182729.1:n.314-1835_314-1824del
NM_001195803.2:c.314-1008_314-997del NP_001182732.1:n.314-1008_314-997del