Canonical Allele Identifier: CA783246668
Gene: LDLR HGNC NCBI

Linked Data

dbSNP Id: rs1232306621
MyVariant Identifiers: chr19:g.11228972_11228973del (hg19) chr19:g.11118296_11118297del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11118296_11118297del , CM000681.2:g.11118296_11118297del GRCh38
NC_000019.9:g.11228972_11228973del , CM000681.1:g.11228972_11228973del GRCh37
NC_000019.8:g.11089972_11089973del NCBI36
NG_009060.1:g.33916_33917del , LRG_274:g.33916_33917del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2103+1298_2103+1299del ENSP00000252444.6:n.2103+1298_2103+1299del
ENST00000559340.2:c.1706-1796_1706-1795del ENSP00000453696.2:n.1706-1796_1706-1795del
ENST00000560467.2:c.1725+1298_1725+1299del ENSP00000453513.2:n.1725+1298_1725+1299del
ENST00000558518.6:c.1845+1298_1845+1299del MANE Select ENSP00000454071.1:n.1845+1298_1845+1299del
ENST00000252444.9:c.2099+1298_2099+1299del
ENST00000455727.6:c.1341+1298_1341+1299del ENSP00000397829.2:n.1341+1298_1341+1299del
ENST00000535915.5:c.1722+1298_1722+1299del ENSP00000440520.1:n.1722+1298_1722+1299del
ENST00000545707.5:c.1464+1298_1464+1299del ENSP00000437639.1:n.1464+1298_1464+1299del
ENST00000557933.5:c.1845+1298_1845+1299del ENSP00000453557.1:n.1845+1298_1845+1299del
ENST00000558013.5:c.1845+1298_1845+1299del ENSP00000453346.1:n.1845+1298_1845+1299del
ENST00000558518.5:c.1845+1298_1845+1299del ENSP00000454071.1:n.1845+1298_1845+1299del
ENST00000559340.1:c.427-1796_427-1795del
NM_000527.4:c.1845+1298_1845+1299del , LRG_274t1:c.1845+1298_1845+1299del NP_000518.1:n.1845+1298_1845+1299del
NM_001195798.1:c.1845+1298_1845+1299del NP_001182727.1:n.1845+1298_1845+1299del
NM_001195799.1:c.1722+1298_1722+1299del NP_001182728.1:n.1722+1298_1722+1299del
NM_001195800.1:c.1341+1298_1341+1299del NP_001182729.1:n.1341+1298_1341+1299del
NM_001195803.1:c.1464+1298_1464+1299del NP_001182732.1:n.1464+1298_1464+1299del
XM_011528010.1:c.1845+1298_1845+1299del XP_011526312.1:n.1845+1298_1845+1299del
XM_011528011.1:c.1464+1298_1464+1299del XP_011526313.1:n.1464+1298_1464+1299del
XR_244074.2:n.1856-1796_1856-1795del
XM_011528010.2:c.1845+1298_1845+1299del XP_011526312.1:n.1845+1298_1845+1299del
XR_001753685.2:n.1962+1298_1962+1299del
XR_001753686.2:n.1823-1796_1823-1795del
NM_000527.5:c.1845+1298_1845+1299del MANE Select NP_000518.1:n.1845+1298_1845+1299del
NM_001195798.2:c.1845+1298_1845+1299del NP_001182727.1:n.1845+1298_1845+1299del
NM_001195799.2:c.1722+1298_1722+1299del NP_001182728.1:n.1722+1298_1722+1299del
NM_001195800.2:c.1341+1298_1341+1299del NP_001182729.1:n.1341+1298_1341+1299del
NM_001195803.2:c.1464+1298_1464+1299del NP_001182732.1:n.1464+1298_1464+1299del
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