Canonical Allele Identifier: CA2017997786
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11107466del , CM000681.2:g.11107466del GRCh38
NC_000019.9:g.11218142del , CM000681.1:g.11218142del GRCh37
NC_000019.8:g.11079142del NCBI36
NG_009060.1:g.23086del , LRG_274:g.23086del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1150del ENSP00000252444.6:p.Met384TrpfsTer?
ENST00000559340.2:c.892del ENSP00000453696.2:p.Met298TrpfsTer?
ENST00000560467.2:c.892del ENSP00000453513.2:p.Met298TrpfsTer?
ENST00000558518.6:c.892del MANE Select ENSP00000454071.1:p.Met298TrpfsTer?
ENST00000252444.9:c.1146del
ENST00000455727.6:c.388del ENSP00000397829.2:p.Met130TrpfsTer?
ENST00000535915.5:c.769del ENSP00000440520.1:p.Met257TrpfsTer?
ENST00000545707.5:c.511del ENSP00000437639.1:p.Met171TrpfsTer?
ENST00000557933.5:c.892del ENSP00000453557.1:p.Met298TrpfsTer?
ENST00000558013.5:c.892del ENSP00000453346.1:p.Met298TrpfsTer?
ENST00000558518.5:c.892del ENSP00000454071.1:p.Met298TrpfsTer?
ENST00000558528.1:n.407del
ENST00000560467.1:c.492del
NM_000527.4:c.892del , LRG_274t1:c.892del NP_000518.1:p.Met298TrpfsTer?
NM_001195798.1:c.892del NP_001182727.1:p.Met298TrpfsTer?
NM_001195799.1:c.769del NP_001182728.1:p.Met257TrpfsTer?
NM_001195800.1:c.388del NP_001182729.1:p.Met130TrpfsTer?
NM_001195803.1:c.511del NP_001182732.1:p.Met171TrpfsTer?
XM_011528010.1:c.892del XP_011526312.1:p.Met298TrpfsTer?
XM_011528011.1:c.511del XP_011526313.1:p.Met171TrpfsTer?
XR_244074.2:n.1042del
XM_011528010.2:c.892del XP_011526312.1:p.Met298TrpfsTer?
XR_001753685.2:n.1009del
XR_001753686.2:n.1009del
NM_000527.5:c.892del MANE Select NP_000518.1:p.Met298TrpfsTer?
NM_001195798.2:c.892del NP_001182727.1:p.Met298TrpfsTer?
NM_001195799.2:c.769del NP_001182728.1:p.Met257TrpfsTer?
NM_001195800.2:c.388del NP_001182729.1:p.Met130TrpfsTer?
NM_001195803.2:c.511del NP_001182732.1:p.Met171TrpfsTer?