Canonical Allele Identifier: CA913188994
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 927821
dbSNP Id: rs2077416170

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113589_11113590delinsGA , CM000681.2:g.11113589_11113590delinsGA GRCh38
NC_000019.9:g.11224265_11224266delinsGA , CM000681.1:g.11224265_11224266delinsGA GRCh37
NC_000019.8:g.11085265_11085266delinsGA NCBI36
NG_009060.1:g.29209_29210delinsGA , LRG_274:g.29209_29210delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1671_1672delinsGA ENSP00000252444.6:p.Asp558Asn
ENST00000559340.2:c.1413_1414delinsGA ENSP00000453696.2:p.Asp472Asn
ENST00000560467.2:c.1293_1294delinsGA ENSP00000453513.2:p.Asp432Asn
ENST00000558518.6:c.1413_1414delinsGA MANE Select ENSP00000454071.1:p.Asp472Asn
ENST00000252444.9:c.1667_1668delinsGA
ENST00000455727.6:c.909_910delinsGA ENSP00000397829.2:p.Asp304Asn
ENST00000535915.5:c.1290_1291delinsGA ENSP00000440520.1:p.Asp431Asn
ENST00000545707.5:c.1032_1033delinsGA ENSP00000437639.1:p.Asp345Asn
ENST00000557933.5:c.1413_1414delinsGA ENSP00000453557.1:p.Asp472Asn
ENST00000558013.5:c.1413_1414delinsGA ENSP00000453346.1:p.Asp472Asn
ENST00000558518.5:c.1413_1414delinsGA ENSP00000454071.1:p.Asp472Asn
ENST00000559340.1:c.134_135delinsGA
ENST00000560467.1:c.893_894delinsGA
NM_000527.4:c.1413_1414delinsGA , LRG_274t1:c.1413_1414delinsGA NP_000518.1:p.Asp472Asn
NM_001195798.1:c.1413_1414delinsGA NP_001182727.1:p.Asp472Asn
NM_001195799.1:c.1290_1291delinsGA NP_001182728.1:p.Asp431Asn
NM_001195800.1:c.909_910delinsGA NP_001182729.1:p.Asp304Asn
NM_001195803.1:c.1032_1033delinsGA NP_001182732.1:p.Asp345Asn
XM_011528010.1:c.1413_1414delinsGA XP_011526312.1:p.Asp472Asn
XM_011528011.1:c.1032_1033delinsGA XP_011526313.1:p.Asp345Asn
XR_244074.2:n.1563_1564delinsGA
XM_011528010.2:c.1413_1414delinsGA XP_011526312.1:p.Asp472Asn
XR_001753685.2:n.1530_1531delinsGA
XR_001753686.2:n.1530_1531delinsGA
NM_000527.5:c.1413_1414delinsGA MANE Select NP_000518.1:p.Asp472Asn
NM_001195798.2:c.1413_1414delinsGA NP_001182727.1:p.Asp472Asn
NM_001195799.2:c.1290_1291delinsGA NP_001182728.1:p.Asp431Asn
NM_001195800.2:c.909_910delinsGA NP_001182729.1:p.Asp304Asn
NM_001195803.2:c.1032_1033delinsGA NP_001182732.1:p.Asp345Asn