Canonical Allele Identifier: CA305301726
Gene: LDLR HGNC NCBI

Linked Data

dbSNP Id: rs1017864916
gnomAD v3: 19-11116796-CCCT-C
gnomAD v4: 19-11116796-CCCT-C
MyVariant Identifiers: chr19:g.11227473_11227475del (hg19) chr19:g.11116797_11116799del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11116798_11116800del , CM000681.2:g.11116798_11116800del GRCh38
NC_000019.9:g.11227474_11227476del , CM000681.1:g.11227474_11227476del GRCh37
NC_000019.8:g.11088474_11088476del NCBI36
NG_009060.1:g.32418_32420del , LRG_274:g.32418_32420del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1964-61_1964-59del ENSP00000252444.6:n.1964-61_1964-59del
ENST00000559340.2:c.1705+586_1705+588del ENSP00000453696.2:n.1705+586_1705+588del
ENST00000560467.2:c.1586-61_1586-59del ENSP00000453513.2:n.1586-61_1586-59del
ENST00000558518.6:c.1706-61_1706-59del MANE Select ENSP00000454071.1:n.1706-61_1706-59del
ENST00000252444.9:c.1960-61_1960-59del
ENST00000455727.6:c.1202-61_1202-59del ENSP00000397829.2:n.1202-61_1202-59del
ENST00000535915.5:c.1583-61_1583-59del ENSP00000440520.1:n.1583-61_1583-59del
ENST00000545707.5:c.1325-61_1325-59del ENSP00000437639.1:n.1325-61_1325-59del
ENST00000557933.5:c.1706-61_1706-59del ENSP00000453557.1:n.1706-61_1706-59del
ENST00000558013.5:c.1706-61_1706-59del ENSP00000453346.1:n.1706-61_1706-59del
ENST00000558518.5:c.1706-61_1706-59del ENSP00000454071.1:n.1706-61_1706-59del
ENST00000559340.1:c.426+586_426+588del
NM_000527.4:c.1706-61_1706-59del , LRG_274t1:c.1706-61_1706-59del NP_000518.1:n.1706-61_1706-59del
NM_001195798.1:c.1706-61_1706-59del NP_001182727.1:n.1706-61_1706-59del
NM_001195799.1:c.1583-61_1583-59del NP_001182728.1:n.1583-61_1583-59del
NM_001195800.1:c.1202-61_1202-59del NP_001182729.1:n.1202-61_1202-59del
NM_001195803.1:c.1325-61_1325-59del NP_001182732.1:n.1325-61_1325-59del
XM_011528010.1:c.1706-61_1706-59del XP_011526312.1:n.1706-61_1706-59del
XM_011528011.1:c.1325-61_1325-59del XP_011526313.1:n.1325-61_1325-59del
XR_244074.2:n.1855+586_1855+588del
XM_011528010.2:c.1706-61_1706-59del XP_011526312.1:n.1706-61_1706-59del
XR_001753685.2:n.1823-61_1823-59del
XR_001753686.2:n.1822+586_1822+588del
NM_000527.5:c.1706-61_1706-59del MANE Select NP_000518.1:n.1706-61_1706-59del
NM_001195798.2:c.1706-61_1706-59del NP_001182727.1:n.1706-61_1706-59del
NM_001195799.2:c.1583-61_1583-59del NP_001182728.1:n.1583-61_1583-59del
NM_001195800.2:c.1202-61_1202-59del NP_001182729.1:n.1202-61_1202-59del
NM_001195803.2:c.1325-61_1325-59del NP_001182732.1:n.1325-61_1325-59del
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