Canonical Allele Identifier: CA10585434
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251821
ClinVar RCV Id: RCV000237549
dbSNP Id: rs879254886

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113555_11113572delinsCAGCTTA , CM000681.2:g.11113555_11113572delinsCAGCTTA GRCh38
NC_000019.9:g.11224231_11224248delinsCAGCTTA , CM000681.1:g.11224231_11224248delinsCAGCTTA GRCh37
NC_000019.8:g.11085231_11085248delinsCAGCTTA NCBI36
NG_009060.1:g.29175_29192delinsCAGCTTA , LRG_274:g.29175_29192delinsCAGCTTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1637_1654delinsCAGCTTA ENSP00000252444.6:p.His546ProfsTer3
ENST00000559340.2:c.1379_1396delinsCAGCTTA ENSP00000453696.2:p.His460ProfsTer3
ENST00000560467.2:c.1259_1276delinsCAGCTTA ENSP00000453513.2:p.His420ProfsTer3
ENST00000558518.6:c.1379_1396delinsCAGCTTA MANE Select ENSP00000454071.1:p.His460ProfsTer3
ENST00000252444.9:c.1633_1650delinsCAGCTTA
ENST00000455727.6:c.875_892delinsCAGCTTA ENSP00000397829.2:p.His292ProfsTer3
ENST00000535915.5:c.1256_1273delinsCAGCTTA ENSP00000440520.1:p.His419ProfsTer3
ENST00000545707.5:c.998_1015delinsCAGCTTA ENSP00000437639.1:p.His333ProfsTer3
ENST00000557933.5:c.1379_1396delinsCAGCTTA ENSP00000453557.1:p.His460ProfsTer3
ENST00000558013.5:c.1379_1396delinsCAGCTTA ENSP00000453346.1:p.His460ProfsTer3
ENST00000558518.5:c.1379_1396delinsCAGCTTA ENSP00000454071.1:p.His460ProfsTer3
ENST00000559340.1:c.100_117delinsCAGCTTA
ENST00000560467.1:c.859_876delinsCAGCTTA
NM_000527.4:c.1379_1396delinsCAGCTTA , LRG_274t1:c.1379_1396delinsCAGCTTA NP_000518.1:p.His460ProfsTer3
NM_001195798.1:c.1379_1396delinsCAGCTTA NP_001182727.1:p.His460ProfsTer3
NM_001195799.1:c.1256_1273delinsCAGCTTA NP_001182728.1:p.His419ProfsTer3
NM_001195800.1:c.875_892delinsCAGCTTA NP_001182729.1:p.His292ProfsTer3
NM_001195803.1:c.998_1015delinsCAGCTTA NP_001182732.1:p.His333ProfsTer3
XM_011528010.1:c.1379_1396delinsCAGCTTA XP_011526312.1:p.His460ProfsTer3
XM_011528011.1:c.998_1015delinsCAGCTTA XP_011526313.1:p.His333ProfsTer3
XR_244074.2:n.1529_1546delinsCAGCTTA
XM_011528010.2:c.1379_1396delinsCAGCTTA XP_011526312.1:p.His460ProfsTer3
XR_001753685.2:n.1496_1513delinsCAGCTTA
XR_001753686.2:n.1496_1513delinsCAGCTTA
NM_000527.5:c.1379_1396delinsCAGCTTA MANE Select NP_000518.1:p.His460ProfsTer3
NM_001195798.2:c.1379_1396delinsCAGCTTA NP_001182727.1:p.His460ProfsTer3
NM_001195799.2:c.1256_1273delinsCAGCTTA NP_001182728.1:p.His419ProfsTer3
NM_001195800.2:c.875_892delinsCAGCTTA NP_001182729.1:p.His292ProfsTer3
NM_001195803.2:c.998_1015delinsCAGCTTA NP_001182732.1:p.His333ProfsTer3