Canonical Allele Identifier: CA2695228149
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11111543del , CM000681.2:g.11111543del GRCh38
NC_000019.9:g.11222219del , CM000681.1:g.11222219del GRCh37
NC_000019.8:g.11083219del NCBI36
NG_009060.1:g.27163del , LRG_274:g.27163del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1348del ENSP00000252444.6:p.Cys450AlafsTer6
ENST00000559340.2:c.1090del ENSP00000453696.2:p.Cys364AlafsTer6
ENST00000560467.2:c.970del ENSP00000453513.2:p.Cys324AlafsTer6
ENST00000558518.6:c.1090del MANE Select ENSP00000454071.1:p.Cys364AlafsTer6
ENST00000252444.9:c.1344del
ENST00000455727.6:c.586del ENSP00000397829.2:p.Cys196AlafsTer6
ENST00000535915.5:c.967del ENSP00000440520.1:p.Cys323AlafsTer6
ENST00000545707.5:c.709del ENSP00000437639.1:p.Cys237AlafsTer6
ENST00000557933.5:c.1090del ENSP00000453557.1:p.Cys364AlafsTer6
ENST00000558013.5:c.1090del ENSP00000453346.1:p.Cys364AlafsTer6
ENST00000558518.5:c.1090del ENSP00000454071.1:p.Cys364AlafsTer6
ENST00000560173.1:n.89del
ENST00000560467.1:c.570del
NM_000527.4:c.1090del , LRG_274t1:c.1090del NP_000518.1:p.Cys364AlafsTer6
NM_001195798.1:c.1090del NP_001182727.1:p.Cys364AlafsTer6
NM_001195799.1:c.967del NP_001182728.1:p.Cys323AlafsTer6
NM_001195800.1:c.586del NP_001182729.1:p.Cys196AlafsTer6
NM_001195803.1:c.709del NP_001182732.1:p.Cys237AlafsTer6
XM_011528010.1:c.1090del XP_011526312.1:p.Cys364AlafsTer6
XM_011528011.1:c.709del XP_011526313.1:p.Cys237AlafsTer6
XR_244074.2:n.1240del
XM_011528010.2:c.1090del XP_011526312.1:p.Cys364AlafsTer6
XR_001753685.2:n.1207del
XR_001753686.2:n.1207del
NM_000527.5:c.1090del MANE Select NP_000518.1:p.Cys364AlafsTer6
NM_001195798.2:c.1090del NP_001182727.1:p.Cys364AlafsTer6
NM_001195799.2:c.967del NP_001182728.1:p.Cys323AlafsTer6
NM_001195800.2:c.586del NP_001182729.1:p.Cys196AlafsTer6
NM_001195803.2:c.709del NP_001182732.1:p.Cys237AlafsTer6