Canonical Allele Identifier: CA2322775108
Gene: LDLR HGNC NCBI

Linked Data

dbSNP Id: rs2077515074

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11119672_11119673insA , CM000681.2:g.11119672_11119673insA GRCh38
NC_000019.9:g.11230348_11230349insA , CM000681.1:g.11230348_11230349insA GRCh37
NC_000019.8:g.11091348_11091349insA NCBI36
NG_009060.1:g.35292_35293insA , LRG_274:g.35292_35293insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2104-420_2104-419insA ENSP00000252444.6:n.2104-420_2104-419insA
ENST00000559340.2:c.1706-420_1706-419insA ENSP00000453696.2:n.1706-420_1706-419insA
ENST00000560467.2:c.1726-420_1726-419insA ENSP00000453513.2:n.1726-420_1726-419insA
ENST00000558518.6:c.1846-420_1846-419insA MANE Select ENSP00000454071.1:n.1846-420_1846-419insA
ENST00000252444.9:c.2100-420_2100-419insA
ENST00000455727.6:c.1342-420_1342-419insA ENSP00000397829.2:n.1342-420_1342-419insA
ENST00000535915.5:c.1723-420_1723-419insA ENSP00000440520.1:n.1723-420_1723-419insA
ENST00000545707.5:c.1465-420_1465-419insA ENSP00000437639.1:n.1465-420_1465-419insA
ENST00000557933.5:c.1846-420_1846-419insA ENSP00000453557.1:n.1846-420_1846-419insA
ENST00000558013.5:c.1846-420_1846-419insA ENSP00000453346.1:n.1846-420_1846-419insA
ENST00000558518.5:c.1846-420_1846-419insA ENSP00000454071.1:n.1846-420_1846-419insA
ENST00000559340.1:c.427-420_427-419insA
NM_000527.4:c.1846-420_1846-419insA , LRG_274t1:c.1846-420_1846-419insA NP_000518.1:n.1846-420_1846-419insA
NM_001195798.1:c.1846-420_1846-419insA NP_001182727.1:n.1846-420_1846-419insA
NM_001195799.1:c.1723-420_1723-419insA NP_001182728.1:n.1723-420_1723-419insA
NM_001195800.1:c.1342-420_1342-419insA NP_001182729.1:n.1342-420_1342-419insA
NM_001195803.1:c.1465-420_1465-419insA NP_001182732.1:n.1465-420_1465-419insA
XM_011528010.1:c.1846-420_1846-419insA XP_011526312.1:n.1846-420_1846-419insA
XM_011528011.1:c.1465-420_1465-419insA XP_011526313.1:n.1465-420_1465-419insA
XR_244074.2:n.1856-420_1856-419insA
XM_011528010.2:c.1846-420_1846-419insA XP_011526312.1:n.1846-420_1846-419insA
XR_001753685.2:n.1963-420_1963-419insA
XR_001753686.2:n.1823-420_1823-419insA
NM_000527.5:c.1846-420_1846-419insA MANE Select NP_000518.1:n.1846-420_1846-419insA
NM_001195798.2:c.1846-420_1846-419insA NP_001182727.1:n.1846-420_1846-419insA
NM_001195799.2:c.1723-420_1723-419insA NP_001182728.1:n.1723-420_1723-419insA
NM_001195800.2:c.1342-420_1342-419insA NP_001182729.1:n.1342-420_1342-419insA
NM_001195803.2:c.1465-420_1465-419insA NP_001182732.1:n.1465-420_1465-419insA