Canonical Allele Identifier: CA920058647
Gene: LDLR HGNC NCBI

Linked Data

dbSNP Id: rs1568610694

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120043del , CM000681.2:g.11120043del GRCh38
NC_000019.9:g.11230719del , CM000681.1:g.11230719del GRCh37
NC_000019.8:g.11091719del NCBI36
NG_009060.1:g.35663del , LRG_274:g.35663del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2104-49del ENSP00000252444.6:n.2104-49del
ENST00000559340.2:c.1706-49del ENSP00000453696.2:n.1706-49del
ENST00000560467.2:c.1726-49del ENSP00000453513.2:n.1726-49del
ENST00000558518.6:c.1846-49del MANE Select ENSP00000454071.1:n.1846-49del
ENST00000252444.9:c.2100-49del
ENST00000455727.6:c.1342-49del ENSP00000397829.2:n.1342-49del
ENST00000535915.5:c.1723-49del ENSP00000440520.1:n.1723-49del
ENST00000545707.5:c.1465-49del ENSP00000437639.1:n.1465-49del
ENST00000557933.5:c.1846-49del ENSP00000453557.1:n.1846-49del
ENST00000558013.5:c.1846-49del ENSP00000453346.1:n.1846-49del
ENST00000558518.5:c.1846-49del ENSP00000454071.1:n.1846-49del
ENST00000559340.1:c.427-49del
NM_000527.4:c.1846-49del , LRG_274t1:c.1846-49del NP_000518.1:n.1846-49del
NM_001195798.1:c.1846-49del NP_001182727.1:n.1846-49del
NM_001195799.1:c.1723-49del NP_001182728.1:n.1723-49del
NM_001195800.1:c.1342-49del NP_001182729.1:n.1342-49del
NM_001195803.1:c.1465-49del NP_001182732.1:n.1465-49del
XM_011528010.1:c.1846-49del XP_011526312.1:n.1846-49del
XM_011528011.1:c.1465-49del XP_011526313.1:n.1465-49del
XR_244074.2:n.1856-49del
XM_011528010.2:c.1846-49del XP_011526312.1:n.1846-49del
XR_001753685.2:n.1963-49del
XR_001753686.2:n.1823-49del
NM_000527.5:c.1846-49del MANE Select NP_000518.1:n.1846-49del
NM_001195798.2:c.1846-49del NP_001182727.1:n.1846-49del
NM_001195799.2:c.1723-49del NP_001182728.1:n.1723-49del
NM_001195800.2:c.1342-49del NP_001182729.1:n.1342-49del
NM_001195803.2:c.1465-49del NP_001182732.1:n.1465-49del