Canonical Allele Identifier: CA1139666274
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 919923
ClinVar RCV Id: RCV001178399

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11116925_11116926delinsGT , CM000681.2:g.11116925_11116926delinsGT GRCh38
NC_000019.9:g.11227601_11227602delinsGT , CM000681.1:g.11227601_11227602delinsGT GRCh37
NC_000019.8:g.11088601_11088602delinsGT NCBI36
NG_009060.1:g.32545_32546delinsGT , LRG_274:g.32545_32546delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2030_2031delinsGT ENSP00000252444.6:p.Asn677Ser
ENST00000559340.2:c.1705+713_1705+714delinsGT ENSP00000453696.2:n.1705+713_1705+714delinsGT
ENST00000560467.2:c.1652_1653delinsGT ENSP00000453513.2:p.Asn551Ser
ENST00000558518.6:c.1772_1773delinsGT MANE Select ENSP00000454071.1:p.Asn591Ser
ENST00000252444.9:c.2026_2027delinsGT
ENST00000455727.6:c.1268_1269delinsGT ENSP00000397829.2:p.Asn423Ser
ENST00000535915.5:c.1649_1650delinsGT ENSP00000440520.1:p.Asn550Ser
ENST00000545707.5:c.1391_1392delinsGT ENSP00000437639.1:p.Asn464Ser
ENST00000557933.5:c.1772_1773delinsGT ENSP00000453557.1:p.Asn591Ser
ENST00000558013.5:c.1772_1773delinsGT ENSP00000453346.1:p.Asn591Ser
ENST00000558518.5:c.1772_1773delinsGT ENSP00000454071.1:p.Asn591Ser
ENST00000559340.1:c.426+713_426+714delinsGT
NM_000527.4:c.1772_1773delinsGT , LRG_274t1:c.1772_1773delinsGT NP_000518.1:p.Asn591Ser
NM_001195798.1:c.1772_1773delinsGT NP_001182727.1:p.Asn591Ser
NM_001195799.1:c.1649_1650delinsGT NP_001182728.1:p.Asn550Ser
NM_001195800.1:c.1268_1269delinsGT NP_001182729.1:p.Asn423Ser
NM_001195803.1:c.1391_1392delinsGT NP_001182732.1:p.Asn464Ser
XM_011528010.1:c.1772_1773delinsGT XP_011526312.1:p.Asn591Ser
XM_011528011.1:c.1391_1392delinsGT XP_011526313.1:p.Asn464Ser
XR_244074.2:n.1855+713_1855+714delinsGT
XM_011528010.2:c.1772_1773delinsGT XP_011526312.1:p.Asn591Ser
XR_001753685.2:n.1889_1890delinsGT
XR_001753686.2:n.1822+713_1822+714delinsGT
NM_000527.5:c.1772_1773delinsGT MANE Select NP_000518.1:p.Asn591Ser
NM_001195798.2:c.1772_1773delinsGT NP_001182727.1:p.Asn591Ser
NM_001195799.2:c.1649_1650delinsGT NP_001182728.1:p.Asn550Ser
NM_001195800.2:c.1268_1269delinsGT NP_001182729.1:p.Asn423Ser
NM_001195803.2:c.1391_1392delinsGT NP_001182732.1:p.Asn464Ser