Canonical Allele Identifier: CA993518763
Gene: LDLR HGNC NCBI

Linked Data

gnomAD v3: 19-11117154-TTG-T
gnomAD v4: 19-11117154-TTG-T
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11117155_11117156del , CM000681.2:g.11117155_11117156del GRCh38
NC_000019.9:g.11227831_11227832del , CM000681.1:g.11227831_11227832del GRCh37
NC_000019.8:g.11088831_11088832del NCBI36
NG_009060.1:g.32775_32776del , LRG_274:g.32775_32776del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2103+157_2103+158del ENSP00000252444.6:n.2103+157_2103+158del
ENST00000559340.2:c.1705+943_1705+944del ENSP00000453696.2:n.1705+943_1705+944del
ENST00000560467.2:c.1725+157_1725+158del ENSP00000453513.2:n.1725+157_1725+158del
ENST00000558518.6:c.1845+157_1845+158del MANE Select ENSP00000454071.1:n.1845+157_1845+158del
ENST00000252444.9:c.2099+157_2099+158del
ENST00000455727.6:c.1341+157_1341+158del ENSP00000397829.2:n.1341+157_1341+158del
ENST00000535915.5:c.1722+157_1722+158del ENSP00000440520.1:n.1722+157_1722+158del
ENST00000545707.5:c.1464+157_1464+158del ENSP00000437639.1:n.1464+157_1464+158del
ENST00000557933.5:c.1845+157_1845+158del ENSP00000453557.1:n.1845+157_1845+158del
ENST00000558013.5:c.1845+157_1845+158del ENSP00000453346.1:n.1845+157_1845+158del
ENST00000558518.5:c.1845+157_1845+158del ENSP00000454071.1:n.1845+157_1845+158del
ENST00000559340.1:c.426+943_426+944del
NM_000527.4:c.1845+157_1845+158del , LRG_274t1:c.1845+157_1845+158del NP_000518.1:n.1845+157_1845+158del
NM_001195798.1:c.1845+157_1845+158del NP_001182727.1:n.1845+157_1845+158del
NM_001195799.1:c.1722+157_1722+158del NP_001182728.1:n.1722+157_1722+158del
NM_001195800.1:c.1341+157_1341+158del NP_001182729.1:n.1341+157_1341+158del
NM_001195803.1:c.1464+157_1464+158del NP_001182732.1:n.1464+157_1464+158del
XM_011528010.1:c.1845+157_1845+158del XP_011526312.1:n.1845+157_1845+158del
XM_011528011.1:c.1464+157_1464+158del XP_011526313.1:n.1464+157_1464+158del
XR_244074.2:n.1855+943_1855+944del
XM_011528010.2:c.1845+157_1845+158del XP_011526312.1:n.1845+157_1845+158del
XR_001753685.2:n.1962+157_1962+158del
XR_001753686.2:n.1822+943_1822+944del
NM_000527.5:c.1845+157_1845+158del MANE Select NP_000518.1:n.1845+157_1845+158del
NM_001195798.2:c.1845+157_1845+158del NP_001182727.1:n.1845+157_1845+158del
NM_001195799.2:c.1722+157_1722+158del NP_001182728.1:n.1722+157_1722+158del
NM_001195800.2:c.1341+157_1341+158del NP_001182729.1:n.1341+157_1341+158del
NM_001195803.2:c.1464+157_1464+158del NP_001182732.1:n.1464+157_1464+158del
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