Canonical Allele Identifier: CA645509281
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 440650
ClinVar RCV Id: RCV000508917
dbSNP Id: rs1555805530

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113746_11113755del , CM000681.2:g.11113746_11113755del GRCh38
NC_000019.9:g.11224422_11224431del , CM000681.1:g.11224422_11224431del GRCh37
NC_000019.8:g.11085422_11085431del NCBI36
NG_009060.1:g.29366_29375del , LRG_274:g.29366_29375del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1828_1837del ENSP00000252444.6:p.Val610PhefsTer21
ENST00000559340.2:c.1570_1579del ENSP00000453696.2:p.Val524PhefsTer21
ENST00000560467.2:c.1450_1459del ENSP00000453513.2:p.Val484PhefsTer21
ENST00000558518.6:c.1570_1579del MANE Select ENSP00000454071.1:p.Val524PhefsTer21
ENST00000252444.9:c.1824_1833del
ENST00000455727.6:c.1066_1075del ENSP00000397829.2:p.Val356PhefsTer21
ENST00000535915.5:c.1447_1456del ENSP00000440520.1:p.Val483PhefsTer21
ENST00000545707.5:c.1189_1198del ENSP00000437639.1:p.Val397PhefsTer21
ENST00000557933.5:c.1570_1579del ENSP00000453557.1:p.Val524PhefsTer21
ENST00000558013.5:c.1570_1579del ENSP00000453346.1:p.Val524PhefsTer21
ENST00000558518.5:c.1570_1579del ENSP00000454071.1:p.Val524PhefsTer21
ENST00000559340.1:c.291_300del
NM_000527.4:c.1570_1579del , LRG_274t1:c.1570_1579del NP_000518.1:p.Val524PhefsTer21
NM_001195798.1:c.1570_1579del NP_001182727.1:p.Val524PhefsTer21
NM_001195799.1:c.1447_1456del NP_001182728.1:p.Val483PhefsTer21
NM_001195800.1:c.1066_1075del NP_001182729.1:p.Val356PhefsTer21
NM_001195803.1:c.1189_1198del NP_001182732.1:p.Val397PhefsTer21
XM_011528010.1:c.1570_1579del XP_011526312.1:p.Val524PhefsTer21
XM_011528011.1:c.1189_1198del XP_011526313.1:p.Val397PhefsTer21
XR_244074.2:n.1720_1729del
XM_011528010.2:c.1570_1579del XP_011526312.1:p.Val524PhefsTer21
XR_001753685.2:n.1687_1696del
XR_001753686.2:n.1687_1696del
NM_000527.5:c.1570_1579del MANE Select NP_000518.1:p.Val524PhefsTer21
NM_001195798.2:c.1570_1579del NP_001182727.1:p.Val524PhefsTer21
NM_001195799.2:c.1447_1456del NP_001182728.1:p.Val483PhefsTer21
NM_001195800.2:c.1066_1075del NP_001182729.1:p.Val356PhefsTer21
NM_001195803.2:c.1189_1198del NP_001182732.1:p.Val397PhefsTer21