Canonical Allele Identifier: CA645373235
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 430781
ClinVar RCV Id: RCV000495889
dbSNP Id: rs1131692212

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113747_11113749del , CM000681.2:g.11113747_11113749del GRCh38
NC_000019.9:g.11224423_11224425del , CM000681.1:g.11224423_11224425del GRCh37
NC_000019.8:g.11085423_11085425del NCBI36
NG_009060.1:g.29367_29369del , LRG_274:g.29367_29369del

Transcript Alleles

HGVS Amino-acid change
ENST00000252444.10:c.1829_1831del ENSP00000252444.6:p.Val610del
ENST00000559340.2:c.1571_1573del ENSP00000453696.2:p.Val524del
ENST00000560467.2:c.1451_1453del ENSP00000453513.2:p.Val484del
ENST00000558518.6:c.1571_1573del MANE Select ENSP00000454071.1:p.Val524del
ENST00000252444.9:c.1825_1827del
ENST00000455727.6:c.1067_1069del ENSP00000397829.2:p.Val356del
ENST00000535915.5:c.1448_1450del ENSP00000440520.1:p.Val483del
ENST00000545707.5:c.1190_1192del ENSP00000437639.1:p.Val397del
ENST00000557933.5:c.1571_1573del ENSP00000453557.1:p.Val524del
ENST00000558013.5:c.1571_1573del ENSP00000453346.1:p.Val524del
ENST00000558518.5:c.1571_1573del ENSP00000454071.1:p.Val524del
ENST00000559340.1:c.292_294del
NM_000527.4:c.1571_1573del , LRG_274t1:c.1571_1573del NP_000518.1:p.Val524del
NM_001195798.1:c.1571_1573del NP_001182727.1:p.Val524del
NM_001195799.1:c.1448_1450del NP_001182728.1:p.Val483del
NM_001195800.1:c.1067_1069del NP_001182729.1:p.Val356del
NM_001195803.1:c.1190_1192del NP_001182732.1:p.Val397del
XM_011528010.1:c.1571_1573del XP_011526312.1:p.Val524del
XM_011528011.1:c.1190_1192del XP_011526313.1:p.Val397del
XR_244074.2:n.1721_1723del
XM_011528010.2:c.1571_1573del XP_011526312.1:p.Val524del
XR_001753685.2:n.1688_1690del
XR_001753686.2:n.1688_1690del
NM_000527.5:c.1571_1573del MANE Select NP_000518.1:p.Val524del
NM_001195798.2:c.1571_1573del NP_001182727.1:p.Val524del
NM_001195799.2:c.1448_1450del NP_001182728.1:p.Val483del
NM_001195800.2:c.1067_1069del NP_001182729.1:p.Val356del
NM_001195803.2:c.1190_1192del NP_001182732.1:p.Val397del