Canonical Allele Identifier: CA2573156038
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1418589
ClinVar RCV Id: RCV001952189
dbSNP Id: rs2147272924

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11123224_11123228dup , CM000681.2:g.11123224_11123228dup GRCh38
NC_000019.9:g.11233900_11233904dup , CM000681.1:g.11233900_11233904dup GRCh37
NC_000019.8:g.11094900_11094904dup NCBI36
NG_009060.1:g.38844_38848dup , LRG_274:g.38844_38848dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2449_2453dup ENSP00000252444.6:p.Ser818ArgfsTer7
ENST00000559340.2:c.*260_*264dup ENSP00000453696.2:n.*260_*264dup
ENST00000560467.2:c.2071_2075dup ENSP00000453513.2:p.Ser692ArgfsTer7
ENST00000558518.6:c.2191_2195dup MANE Select ENSP00000454071.1:p.Ser732ArgfsTer7
ENST00000252444.9:c.2445_2449dup
ENST00000455727.6:c.1687_1691dup ENSP00000397829.2:p.Ser564ArgfsTer7
ENST00000535915.5:c.2068_2072dup ENSP00000440520.1:p.Ser691ArgfsTer7
ENST00000545707.5:c.1657_1661dup ENSP00000437639.1:p.Ser554ArgfsTer7
ENST00000557933.5:c.2191_2195dup ENSP00000453557.1:p.Ser732ArgfsTer7
ENST00000558013.5:c.2191_2195dup ENSP00000453346.1:p.Ser732ArgfsTer7
ENST00000558518.5:c.2191_2195dup ENSP00000454071.1:p.Ser732ArgfsTer7
NM_000527.4:c.2191_2195dup , LRG_274t1:c.2191_2195dup NP_000518.1:p.Ser732ArgfsTer7
NM_001195798.1:c.2191_2195dup NP_001182727.1:p.Ser732ArgfsTer7
NM_001195799.1:c.2068_2072dup NP_001182728.1:p.Ser691ArgfsTer7
NM_001195800.1:c.1687_1691dup NP_001182729.1:p.Ser564ArgfsTer7
NM_001195803.1:c.1657_1661dup NP_001182732.1:p.Ser554ArgfsTer7
XM_011528010.1:c.2191_2195dup XP_011526312.1:p.Ser732ArgfsTer7
XM_011528011.1:c.1810_1814dup XP_011526313.1:p.Ser605ArgfsTer7
XR_244074.2:n.2201_2205dup
XM_011528010.2:c.2191_2195dup XP_011526312.1:p.Ser732ArgfsTer7
XR_001753685.2:n.2525_2529dup
XR_001753686.2:n.2168_2172dup
NM_000527.5:c.2191_2195dup MANE Select NP_000518.1:p.Ser732ArgfsTer7
NM_001195798.2:c.2191_2195dup NP_001182727.1:p.Ser732ArgfsTer7
NM_001195799.2:c.2068_2072dup NP_001182728.1:p.Ser691ArgfsTer7
NM_001195800.2:c.1687_1691dup NP_001182729.1:p.Ser564ArgfsTer7
NM_001195803.2:c.1657_1661dup NP_001182732.1:p.Ser554ArgfsTer7