Canonical Allele Identifier: CA993534906
Gene: LDLR HGNC NCBI

Linked Data

dbSNP Id: rs2077329852
gnomAD v3: 19-11108319-CAG-C
gnomAD v4: 19-11108319-CAG-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11108322_11108323del , CM000681.2:g.11108322_11108323del GRCh38
NC_000019.9:g.11218998_11218999del , CM000681.1:g.11218998_11218999del GRCh37
NC_000019.8:g.11079998_11079999del NCBI36
NG_009060.1:g.23942_23943del , LRG_274:g.23942_23943del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1198+808_1198+809del ENSP00000252444.6:n.1198+808_1198+809del
ENST00000559340.2:c.940+808_940+809del ENSP00000453696.2:n.940+808_940+809del
ENST00000560467.2:c.940+808_940+809del ENSP00000453513.2:n.940+808_940+809del
ENST00000558518.6:c.940+808_940+809del MANE Select ENSP00000454071.1:n.940+808_940+809del
ENST00000252444.9:c.1194+808_1194+809del
ENST00000455727.6:c.436+808_436+809del ENSP00000397829.2:n.436+808_436+809del
ENST00000535915.5:c.817+808_817+809del ENSP00000440520.1:n.817+808_817+809del
ENST00000545707.5:c.559+808_559+809del ENSP00000437639.1:n.559+808_559+809del
ENST00000557933.5:c.940+808_940+809del ENSP00000453557.1:n.940+808_940+809del
ENST00000558013.5:c.940+808_940+809del ENSP00000453346.1:n.940+808_940+809del
ENST00000558518.5:c.940+808_940+809del ENSP00000454071.1:n.940+808_940+809del
ENST00000560467.1:c.540+808_540+809del
NM_000527.4:c.940+808_940+809del , LRG_274t1:c.940+808_940+809del NP_000518.1:n.940+808_940+809del
NM_001195798.1:c.940+808_940+809del NP_001182727.1:n.940+808_940+809del
NM_001195799.1:c.817+808_817+809del NP_001182728.1:n.817+808_817+809del
NM_001195800.1:c.436+808_436+809del NP_001182729.1:n.436+808_436+809del
NM_001195803.1:c.559+808_559+809del NP_001182732.1:n.559+808_559+809del
XM_011528010.1:c.940+808_940+809del XP_011526312.1:n.940+808_940+809del
XM_011528011.1:c.559+808_559+809del XP_011526313.1:n.559+808_559+809del
XR_244074.2:n.1090+808_1090+809del
XM_011528010.2:c.940+808_940+809del XP_011526312.1:n.940+808_940+809del
XR_001753685.2:n.1057+808_1057+809del
XR_001753686.2:n.1057+808_1057+809del
NM_000527.5:c.940+808_940+809del MANE Select NP_000518.1:n.940+808_940+809del
NM_001195798.2:c.940+808_940+809del NP_001182727.1:n.940+808_940+809del
NM_001195799.2:c.817+808_817+809del NP_001182728.1:n.817+808_817+809del
NM_001195800.2:c.436+808_436+809del NP_001182729.1:n.436+808_436+809del
NM_001195803.2:c.559+808_559+809del NP_001182732.1:n.559+808_559+809del
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