Canonical Allele Identifier: CA645373243
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 430787
ClinVar RCV Id: RCV000495932
dbSNP Id: rs1131692217

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11116897_11116898insA , CM000681.2:g.11116897_11116898insA GRCh38
NC_000019.9:g.11227573_11227574insA , CM000681.1:g.11227573_11227574insA GRCh37
NC_000019.8:g.11088573_11088574insA NCBI36
NG_009060.1:g.32517_32518insA , LRG_274:g.32517_32518insA

Transcript Alleles

HGVS Amino-acid change
ENST00000252444.10:c.2002_2003insA ENSP00000252444.6:p.Leu668HisfsTer21
ENST00000559340.2:c.1705+685_1705+686insA ENSP00000453696.2:n.1705+685_1705+686insA...
ENST00000560467.2:c.1624_1625insA ENSP00000453513.2:p.Leu542HisfsTer21
ENST00000558518.6:c.1744_1745insA MANE Select ENSP00000454071.1:p.Leu582HisfsTer21
ENST00000252444.9:c.1998_1999insA
ENST00000455727.6:c.1240_1241insA ENSP00000397829.2:p.Leu414HisfsTer21
ENST00000535915.5:c.1621_1622insA ENSP00000440520.1:p.Leu541HisfsTer21
ENST00000545707.5:c.1363_1364insA ENSP00000437639.1:p.Leu455HisfsTer21
ENST00000557933.5:c.1744_1745insA ENSP00000453557.1:p.Leu582HisfsTer21
ENST00000558013.5:c.1744_1745insA ENSP00000453346.1:p.Leu582HisfsTer21
ENST00000558518.5:c.1744_1745insA ENSP00000454071.1:p.Leu582HisfsTer21
ENST00000559340.1:c.426+685_426+686insA
NM_000527.4:c.1744_1745insA , LRG_274t1:c.1744_1745insA NP_000518.1:p.Leu582HisfsTer21
NM_001195798.1:c.1744_1745insA NP_001182727.1:p.Leu582HisfsTer21
NM_001195799.1:c.1621_1622insA NP_001182728.1:p.Leu541HisfsTer21
NM_001195800.1:c.1240_1241insA NP_001182729.1:p.Leu414HisfsTer21
NM_001195803.1:c.1363_1364insA NP_001182732.1:p.Leu455HisfsTer21
XM_011528010.1:c.1744_1745insA XP_011526312.1:p.Leu582HisfsTer21
XM_011528011.1:c.1363_1364insA XP_011526313.1:p.Leu455HisfsTer21
XR_244074.2:n.1855+685_1855+686insA
XM_011528010.2:c.1744_1745insA XP_011526312.1:p.Leu582HisfsTer21
XR_001753685.2:n.1861_1862insA
XR_001753686.2:n.1822+685_1822+686insA
NM_000527.5:c.1744_1745insA MANE Select NP_000518.1:p.Leu582HisfsTer21
NM_001195798.2:c.1744_1745insA NP_001182727.1:p.Leu582HisfsTer21
NM_001195799.2:c.1621_1622insA NP_001182728.1:p.Leu541HisfsTer21
NM_001195800.2:c.1240_1241insA NP_001182729.1:p.Leu414HisfsTer21
NM_001195803.2:c.1363_1364insA NP_001182732.1:p.Leu455HisfsTer21