Canonical Allele Identifier: CA2497030057
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1410201
ClinVar RCV Id: RCV001916330
dbSNP Id: rs2147241900

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11111624del , CM000681.2:g.11111624del GRCh38
NC_000019.9:g.11222300del , CM000681.1:g.11222300del GRCh37
NC_000019.8:g.11083300del NCBI36
NG_009060.1:g.27244del , LRG_274:g.27244del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1429del ENSP00000252444.6:p.Ala477ProfsTer22
ENST00000559340.2:c.1171del ENSP00000453696.2:p.Ala391ProfsTer22
ENST00000560467.2:c.1051del ENSP00000453513.2:p.Ala351ProfsTer22
ENST00000558518.6:c.1171del MANE Select ENSP00000454071.1:p.Ala391ProfsTer22
ENST00000252444.9:c.1425del
ENST00000455727.6:c.667del ENSP00000397829.2:p.Ala223ProfsTer22
ENST00000535915.5:c.1048del ENSP00000440520.1:p.Ala350ProfsTer22
ENST00000545707.5:c.790del ENSP00000437639.1:p.Ala264ProfsTer22
ENST00000557933.5:c.1171del ENSP00000453557.1:p.Ala391ProfsTer22
ENST00000558013.5:c.1171del ENSP00000453346.1:p.Ala391ProfsTer22
ENST00000558518.5:c.1171del ENSP00000454071.1:p.Ala391ProfsTer22
ENST00000560173.1:n.170del
ENST00000560467.1:c.651del
NM_000527.4:c.1171del , LRG_274t1:c.1171del NP_000518.1:p.Ala391ProfsTer22
NM_001195798.1:c.1171del NP_001182727.1:p.Ala391ProfsTer22
NM_001195799.1:c.1048del NP_001182728.1:p.Ala350ProfsTer22
NM_001195800.1:c.667del NP_001182729.1:p.Ala223ProfsTer22
NM_001195803.1:c.790del NP_001182732.1:p.Ala264ProfsTer22
XM_011528010.1:c.1171del XP_011526312.1:p.Ala391ProfsTer22
XM_011528011.1:c.790del XP_011526313.1:p.Ala264ProfsTer22
XR_244074.2:n.1321del
XM_011528010.2:c.1171del XP_011526312.1:p.Ala391ProfsTer22
XR_001753685.2:n.1288del
XR_001753686.2:n.1288del
NM_000527.5:c.1171del MANE Select NP_000518.1:p.Ala391ProfsTer22
NM_001195798.2:c.1171del NP_001182727.1:p.Ala391ProfsTer22
NM_001195799.2:c.1048del NP_001182728.1:p.Ala350ProfsTer22
NM_001195800.2:c.667del NP_001182729.1:p.Ala223ProfsTer22
NM_001195803.2:c.790del NP_001182732.1:p.Ala264ProfsTer22