Canonical Allele Identifier: CA2697556257
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2701718
ClinVar RCV Id: RCV003582255

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113578_11113583del , CM000681.2:g.11113578_11113583del GRCh38
NC_000019.9:g.11224254_11224259del , CM000681.1:g.11224254_11224259del GRCh37
NC_000019.8:g.11085254_11085259del NCBI36
NG_009060.1:g.29198_29203del , LRG_274:g.29198_29203del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1660_1665del ENSP00000252444.6:p.Val554_Ile555del
ENST00000559340.2:c.1402_1407del ENSP00000453696.2:p.Val468_Ile469del
ENST00000560467.2:c.1282_1287del ENSP00000453513.2:p.Val428_Ile429del
ENST00000558518.6:c.1402_1407del MANE Select ENSP00000454071.1:p.Val468_Ile469del
ENST00000252444.9:c.1656_1661del
ENST00000455727.6:c.898_903del ENSP00000397829.2:p.Val300_Ile301del
ENST00000535915.5:c.1279_1284del ENSP00000440520.1:p.Val427_Ile428del
ENST00000545707.5:c.1021_1026del ENSP00000437639.1:p.Val341_Ile342del
ENST00000557933.5:c.1402_1407del ENSP00000453557.1:p.Val468_Ile469del
ENST00000558013.5:c.1402_1407del ENSP00000453346.1:p.Val468_Ile469del
ENST00000558518.5:c.1402_1407del ENSP00000454071.1:p.Val468_Ile469del
ENST00000559340.1:c.123_128del
ENST00000560467.1:c.882_887del
NM_000527.4:c.1402_1407del , LRG_274t1:c.1402_1407del NP_000518.1:p.Val468_Ile469del
NM_001195798.1:c.1402_1407del NP_001182727.1:p.Val468_Ile469del
NM_001195799.1:c.1279_1284del NP_001182728.1:p.Val427_Ile428del
NM_001195800.1:c.898_903del NP_001182729.1:p.Val300_Ile301del
NM_001195803.1:c.1021_1026del NP_001182732.1:p.Val341_Ile342del
XM_011528010.1:c.1402_1407del XP_011526312.1:p.Val468_Ile469del
XM_011528011.1:c.1021_1026del XP_011526313.1:p.Val341_Ile342del
XR_244074.2:n.1552_1557del
XM_011528010.2:c.1402_1407del XP_011526312.1:p.Val468_Ile469del
XR_001753685.2:n.1519_1524del
XR_001753686.2:n.1519_1524del
NM_000527.5:c.1402_1407del MANE Select NP_000518.1:p.Val468_Ile469del
NM_001195798.2:c.1402_1407del NP_001182727.1:p.Val468_Ile469del
NM_001195799.2:c.1279_1284del NP_001182728.1:p.Val427_Ile428del
NM_001195800.2:c.898_903del NP_001182729.1:p.Val300_Ile301del
NM_001195803.2:c.1021_1026del NP_001182732.1:p.Val341_Ile342del