Canonical Allele Identifier: CA1139666264
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 869390
dbSNP Id: rs2077315885

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11107517_11107520del , CM000681.2:g.11107517_11107520del GRCh38
NC_000019.9:g.11218193_11218196del , CM000681.1:g.11218193_11218196del GRCh37
NC_000019.8:g.11079193_11079196del NCBI36
NG_009060.1:g.23137_23140del , LRG_274:g.23137_23140del

Transcript Alleles

HGVS Amino-acid change
ENST00000252444.10:c.1198+3_1198+6del ENSP00000252444.6:n.1198+3_1198+6del
ENST00000559340.2:c.940+3_940+6del ENSP00000453696.2:n.940+3_940+6del
ENST00000560467.2:c.940+3_940+6del ENSP00000453513.2:n.940+3_940+6del
ENST00000558518.6:c.940+3_940+6del MANE Select ENSP00000454071.1:n.940+3_940+6del
ENST00000252444.9:c.1194+3_1194+6del
ENST00000455727.6:c.436+3_436+6del ENSP00000397829.2:n.436+3_436+6del
ENST00000535915.5:c.817+3_817+6del ENSP00000440520.1:n.817+3_817+6del
ENST00000545707.5:c.559+3_559+6del ENSP00000437639.1:n.559+3_559+6del
ENST00000557933.5:c.940+3_940+6del ENSP00000453557.1:n.940+3_940+6del
ENST00000558013.5:c.940+3_940+6del ENSP00000453346.1:n.940+3_940+6del
ENST00000558518.5:c.940+3_940+6del ENSP00000454071.1:n.940+3_940+6del
ENST00000560467.1:c.540+3_540+6del
NM_000527.4:c.940+3_940+6del , LRG_274t1:c.940+3_940+6del NP_000518.1:n.940+3_940+6del
NM_001195798.1:c.940+3_940+6del NP_001182727.1:n.940+3_940+6del
NM_001195799.1:c.817+3_817+6del NP_001182728.1:n.817+3_817+6del
NM_001195800.1:c.436+3_436+6del NP_001182729.1:n.436+3_436+6del
NM_001195803.1:c.559+3_559+6del NP_001182732.1:n.559+3_559+6del
XM_011528010.1:c.940+3_940+6del XP_011526312.1:n.940+3_940+6del
XM_011528011.1:c.559+3_559+6del XP_011526313.1:n.559+3_559+6del
XR_244074.2:n.1090+3_1090+6del
XM_011528010.2:c.940+3_940+6del XP_011526312.1:n.940+3_940+6del
XR_001753685.2:n.1057+3_1057+6del
XR_001753686.2:n.1057+3_1057+6del
NM_000527.5:c.940+3_940+6del MANE Select NP_000518.1:n.940+3_940+6del
NM_001195798.2:c.940+3_940+6del NP_001182727.1:n.940+3_940+6del
NM_001195799.2:c.817+3_817+6del NP_001182728.1:n.817+3_817+6del
NM_001195800.2:c.436+3_436+6del NP_001182729.1:n.436+3_436+6del
NM_001195803.2:c.559+3_559+6del NP_001182732.1:n.559+3_559+6del