Canonical Allele Identifier: CA2322775326
Gene: LDLR HGNC NCBI

Linked Data

dbSNP Id: rs2077521935
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120069_11120073dup , CM000681.2:g.11120069_11120073dup GRCh38
NC_000019.9:g.11230745_11230749dup , CM000681.1:g.11230745_11230749dup GRCh37
NC_000019.8:g.11091745_11091749dup NCBI36
NG_009060.1:g.35689_35693dup , LRG_274:g.35689_35693dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2104-23_2104-19dup ENSP00000252444.6:n.2104-23_2104-19dup
ENST00000559340.2:c.1706-23_1706-19dup ENSP00000453696.2:n.1706-23_1706-19dup
ENST00000560467.2:c.1726-23_1726-19dup ENSP00000453513.2:n.1726-23_1726-19dup
ENST00000558518.6:c.1846-23_1846-19dup MANE Select ENSP00000454071.1:n.1846-23_1846-19dup
ENST00000252444.9:c.2100-23_2100-19dup
ENST00000455727.6:c.1342-23_1342-19dup ENSP00000397829.2:n.1342-23_1342-19dup
ENST00000535915.5:c.1723-23_1723-19dup ENSP00000440520.1:n.1723-23_1723-19dup
ENST00000545707.5:c.1465-23_1465-19dup ENSP00000437639.1:n.1465-23_1465-19dup
ENST00000557933.5:c.1846-23_1846-19dup ENSP00000453557.1:n.1846-23_1846-19dup
ENST00000558013.5:c.1846-23_1846-19dup ENSP00000453346.1:n.1846-23_1846-19dup
ENST00000558518.5:c.1846-23_1846-19dup ENSP00000454071.1:n.1846-23_1846-19dup
ENST00000559340.1:c.427-23_427-19dup
NM_000527.4:c.1846-23_1846-19dup , LRG_274t1:c.1846-23_1846-19dup NP_000518.1:n.1846-23_1846-19dup
NM_001195798.1:c.1846-23_1846-19dup NP_001182727.1:n.1846-23_1846-19dup
NM_001195799.1:c.1723-23_1723-19dup NP_001182728.1:n.1723-23_1723-19dup
NM_001195800.1:c.1342-23_1342-19dup NP_001182729.1:n.1342-23_1342-19dup
NM_001195803.1:c.1465-23_1465-19dup NP_001182732.1:n.1465-23_1465-19dup
XM_011528010.1:c.1846-23_1846-19dup XP_011526312.1:n.1846-23_1846-19dup
XM_011528011.1:c.1465-23_1465-19dup XP_011526313.1:n.1465-23_1465-19dup
XR_244074.2:n.1856-23_1856-19dup
XM_011528010.2:c.1846-23_1846-19dup XP_011526312.1:n.1846-23_1846-19dup
XR_001753685.2:n.1963-23_1963-19dup
XR_001753686.2:n.1823-23_1823-19dup
NM_000527.5:c.1846-23_1846-19dup MANE Select NP_000518.1:n.1846-23_1846-19dup
NM_001195798.2:c.1846-23_1846-19dup NP_001182727.1:n.1846-23_1846-19dup
NM_001195799.2:c.1723-23_1723-19dup NP_001182728.1:n.1723-23_1723-19dup
NM_001195800.2:c.1342-23_1342-19dup NP_001182729.1:n.1342-23_1342-19dup
NM_001195803.2:c.1465-23_1465-19dup NP_001182732.1:n.1465-23_1465-19dup
Search 100 bp 5'
Search 100 bp 3'