Canonical Allele Identifier: CA305301732
Gene: LDLR HGNC NCBI

Linked Data

dbSNP Id: rs981932431
MyVariant Identifiers: chr19:g.11227487_11227507del (hg19) chr19:g.11116811_11116831del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11116811_11116831del , CM000681.2:g.11116811_11116831del GRCh38
NC_000019.9:g.11227487_11227507del , CM000681.1:g.11227487_11227507del GRCh37
NC_000019.8:g.11088487_11088507del NCBI36
NG_009060.1:g.32431_32451del , LRG_274:g.32431_32451del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1964-48_1964-28del ENSP00000252444.6:n.1964-48_1964-28del
ENST00000559340.2:c.1705+599_1705+619del ENSP00000453696.2:n.1705+599_1705+619del
ENST00000560467.2:c.1586-48_1586-28del ENSP00000453513.2:n.1586-48_1586-28del
ENST00000558518.6:c.1706-48_1706-28del MANE Select ENSP00000454071.1:n.1706-48_1706-28del
ENST00000252444.9:c.1960-48_1960-28del
ENST00000455727.6:c.1202-48_1202-28del ENSP00000397829.2:n.1202-48_1202-28del
ENST00000535915.5:c.1583-48_1583-28del ENSP00000440520.1:n.1583-48_1583-28del
ENST00000545707.5:c.1325-48_1325-28del ENSP00000437639.1:n.1325-48_1325-28del
ENST00000557933.5:c.1706-48_1706-28del ENSP00000453557.1:n.1706-48_1706-28del
ENST00000558013.5:c.1706-48_1706-28del ENSP00000453346.1:n.1706-48_1706-28del
ENST00000558518.5:c.1706-48_1706-28del ENSP00000454071.1:n.1706-48_1706-28del
ENST00000559340.1:c.426+599_426+619del
NM_000527.4:c.1706-48_1706-28del , LRG_274t1:c.1706-48_1706-28del NP_000518.1:n.1706-48_1706-28del
NM_001195798.1:c.1706-48_1706-28del NP_001182727.1:n.1706-48_1706-28del
NM_001195799.1:c.1583-48_1583-28del NP_001182728.1:n.1583-48_1583-28del
NM_001195800.1:c.1202-48_1202-28del NP_001182729.1:n.1202-48_1202-28del
NM_001195803.1:c.1325-48_1325-28del NP_001182732.1:n.1325-48_1325-28del
XM_011528010.1:c.1706-48_1706-28del XP_011526312.1:n.1706-48_1706-28del
XM_011528011.1:c.1325-48_1325-28del XP_011526313.1:n.1325-48_1325-28del
XR_244074.2:n.1855+599_1855+619del
XM_011528010.2:c.1706-48_1706-28del XP_011526312.1:n.1706-48_1706-28del
XR_001753685.2:n.1823-48_1823-28del
XR_001753686.2:n.1822+599_1822+619del
NM_000527.5:c.1706-48_1706-28del MANE Select NP_000518.1:n.1706-48_1706-28del
NM_001195798.2:c.1706-48_1706-28del NP_001182727.1:n.1706-48_1706-28del
NM_001195799.2:c.1583-48_1583-28del NP_001182728.1:n.1583-48_1583-28del
NM_001195800.2:c.1202-48_1202-28del NP_001182729.1:n.1202-48_1202-28del
NM_001195803.2:c.1325-48_1325-28del NP_001182732.1:n.1325-48_1325-28del
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