Canonical Allele Identifier: CA2573050593
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11111565_11111585del , CM000681.2:g.11111565_11111585del GRCh38
NC_000019.9:g.11222241_11222261del , CM000681.1:g.11222241_11222261del GRCh37
NC_000019.8:g.11083241_11083261del NCBI36
NG_009060.1:g.27185_27205del , LRG_274:g.27185_27205del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1370_1390del ENSP00000252444.6:p.Leu457_Cys463del
ENST00000559340.2:c.1112_1132del ENSP00000453696.2:p.Leu371_Cys377del
ENST00000560467.2:c.992_1012del ENSP00000453513.2:p.Leu331_Cys337del
ENST00000558518.6:c.1112_1132del MANE Select ENSP00000454071.1:p.Leu371_Cys377del
ENST00000252444.9:c.1366_1386del
ENST00000455727.6:c.608_628del ENSP00000397829.2:p.Leu203_Cys209del
ENST00000535915.5:c.989_1009del ENSP00000440520.1:p.Leu330_Cys336del
ENST00000545707.5:c.731_751del ENSP00000437639.1:p.Leu244_Cys250del
ENST00000557933.5:c.1112_1132del ENSP00000453557.1:p.Leu371_Cys377del
ENST00000558013.5:c.1112_1132del ENSP00000453346.1:p.Leu371_Cys377del
ENST00000558518.5:c.1112_1132del ENSP00000454071.1:p.Leu371_Cys377del
ENST00000560173.1:n.111_131del
ENST00000560467.1:c.592_612del
NM_000527.4:c.1112_1132del , LRG_274t1:c.1112_1132del NP_000518.1:p.Leu371_Cys377del
NM_001195798.1:c.1112_1132del NP_001182727.1:p.Leu371_Cys377del
NM_001195799.1:c.989_1009del NP_001182728.1:p.Leu330_Cys336del
NM_001195800.1:c.608_628del NP_001182729.1:p.Leu203_Cys209del
NM_001195803.1:c.731_751del NP_001182732.1:p.Leu244_Cys250del
XM_011528010.1:c.1112_1132del XP_011526312.1:p.Leu371_Cys377del
XM_011528011.1:c.731_751del XP_011526313.1:p.Leu244_Cys250del
XR_244074.2:n.1262_1282del
XM_011528010.2:c.1112_1132del XP_011526312.1:p.Leu371_Cys377del
XR_001753685.2:n.1229_1249del
XR_001753686.2:n.1229_1249del
NM_000527.5:c.1112_1132del MANE Select NP_000518.1:p.Leu371_Cys377del
NM_001195798.2:c.1112_1132del NP_001182727.1:p.Leu371_Cys377del
NM_001195799.2:c.989_1009del NP_001182728.1:p.Leu330_Cys336del
NM_001195800.2:c.608_628del NP_001182729.1:p.Leu203_Cys209del
NM_001195803.2:c.731_751del NP_001182732.1:p.Leu244_Cys250del