Canonical Allele Identifier: CA2573155713
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1409174
ClinVar RCV Id: RCV001930312
dbSNP Id: rs2147225506
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105571_11105579dup , CM000681.2:g.11105571_11105579dup GRCh38
NC_000019.9:g.11216247_11216255dup , CM000681.1:g.11216247_11216255dup GRCh37
NC_000019.8:g.11077247_11077255dup NCBI36
NG_009060.1:g.21191_21199dup , LRG_274:g.21191_21199dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.923_931dup ENSP00000252444.6:p.Asp310_Lys311insSerLysAsp
ENST00000559340.2:c.665_673dup ENSP00000453696.2:p.Asp224_Lys225insSerLysAsp
ENST00000560467.2:c.665_673dup ENSP00000453513.2:p.Asp224_Lys225insSerLysAsp
ENST00000558518.6:c.665_673dup MANE Select ENSP00000454071.1:p.Asp224_Lys225insSerLysAsp
ENST00000252444.9:c.919_927dup
ENST00000455727.6:c.314-1821_314-1813dup ENSP00000397829.2:n.314-1821_314-1813dup
ENST00000535915.5:c.542_550dup ENSP00000440520.1:p.Asp183_Lys184insSerLysAsp
ENST00000545707.5:c.314-994_314-986dup ENSP00000437639.1:n.314-994_314-986dup
ENST00000557933.5:c.665_673dup ENSP00000453557.1:p.Asp224_Lys225insSerLysAsp
ENST00000558013.5:c.665_673dup ENSP00000453346.1:p.Asp224_Lys225insSerLysAsp
ENST00000558518.5:c.665_673dup ENSP00000454071.1:p.Asp224_Lys225insSerLysAsp
ENST00000560467.1:c.265_273dup
NM_000527.4:c.665_673dup , LRG_274t1:c.665_673dup NP_000518.1:p.Asp224_Lys225insSerLysAsp
NM_001195798.1:c.665_673dup NP_001182727.1:p.Asp224_Lys225insSerLysAsp
NM_001195799.1:c.542_550dup NP_001182728.1:p.Asp183_Lys184insSerLysAsp
NM_001195800.1:c.314-1821_314-1813dup NP_001182729.1:n.314-1821_314-1813dup
NM_001195803.1:c.314-994_314-986dup NP_001182732.1:n.314-994_314-986dup
XM_011528010.1:c.665_673dup XP_011526312.1:p.Asp224_Lys225insSerLysAsp
XM_011528011.1:c.314-994_314-986dup XP_011526313.1:n.314-994_314-986dup
XR_244074.2:n.815_823dup
XM_011528010.2:c.665_673dup XP_011526312.1:p.Asp224_Lys225insSerLysAsp
XR_001753685.2:n.782_790dup
XR_001753686.2:n.782_790dup
NM_000527.5:c.665_673dup MANE Select NP_000518.1:p.Asp224_Lys225insSerLysAsp
NM_001195798.2:c.665_673dup NP_001182727.1:p.Asp224_Lys225insSerLysAsp
NM_001195799.2:c.542_550dup NP_001182728.1:p.Asp183_Lys184insSerLysAsp
NM_001195800.2:c.314-1821_314-1813dup NP_001182729.1:n.314-1821_314-1813dup
NM_001195803.2:c.314-994_314-986dup NP_001182732.1:n.314-994_314-986dup
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