Canonical Allele Identifier: CA658653705
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 441190
ClinVar RCV Id: RCV000509513
dbSNP Id: rs1555803471
MyVariant Identifiers: chr19:g.11216263_11216264insTCAGGGAAACCCGACTGC (hg19) chr19:g.11105587_11105588insTCAGGGAAACCCGACTGC (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105587_11105588insTCAGGGAAACCCGACTGC , CM000681.2:g.11105587_11105588insTCAGGGAAACCCGACTGC GRCh38
NC_000019.9:g.11216263_11216264insTCAGGGAAACCCGACTGC , CM000681.1:g.11216263_11216264insTCAGGGAAACCCGACTGC GRCh37
NC_000019.8:g.11077263_11077264insTCAGGGAAACCCGACTGC NCBI36
NG_009060.1:g.21207_21208insTCAGGGAAACCCGACTGC , LRG_274:g.21207_21208insTCAGGGAAACCCGACTGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.939_940insTCAGGGAAACCCGACTGC ENSP00000252444.6:p.Asp313_Glu314insSerGlyLysProAspCys
ENST00000559340.2:c.681_682insTCAGGGAAACCCGACTGC ENSP00000453696.2:p.Asp227_Glu228insSerGlyLysProAspCys
ENST00000560467.2:c.681_682insTCAGGGAAACCCGACTGC ENSP00000453513.2:p.Asp227_Glu228insSerGlyLysProAspCys
ENST00000558518.6:c.681_682insTCAGGGAAACCCGACTGC MANE Select ENSP00000454071.1:p.Asp227_Glu228insSerGlyLysProAspCys
ENST00000252444.9:c.935_936insTCAGGGAAACCCGACTGC
ENST00000455727.6:c.314-1805_314-1804insTCAGGGAAACCCGACTGC ENSP00000397829.2:n.314-1805_314-1804insTCAGGGAAACCCGACTGC
ENST00000535915.5:c.558_559insTCAGGGAAACCCGACTGC ENSP00000440520.1:p.Asp186_Glu187insSerGlyLysProAspCys
ENST00000545707.5:c.314-978_314-977insTCAGGGAAACCCGACTGC ENSP00000437639.1:n.314-978_314-977insTCAGGGAAACCCGACTGC
ENST00000557933.5:c.681_682insTCAGGGAAACCCGACTGC ENSP00000453557.1:p.Asp227_Glu228insSerGlyLysProAspCys
ENST00000558013.5:c.681_682insTCAGGGAAACCCGACTGC ENSP00000453346.1:p.Asp227_Glu228insSerGlyLysProAspCys
ENST00000558518.5:c.681_682insTCAGGGAAACCCGACTGC ENSP00000454071.1:p.Asp227_Glu228insSerGlyLysProAspCys
ENST00000560467.1:c.281_282insTCAGGGAAACCCGACTGC
NM_000527.4:c.681_682insTCAGGGAAACCCGACTGC , LRG_274t1:c.681_682insTCAGGGAAACCCGACTGC NP_000518.1:p.Asp227_Glu228insSerGlyLysProAspCys
NM_001195798.1:c.681_682insTCAGGGAAACCCGACTGC NP_001182727.1:p.Asp227_Glu228insSerGlyLysProAspCys
NM_001195799.1:c.558_559insTCAGGGAAACCCGACTGC NP_001182728.1:p.Asp186_Glu187insSerGlyLysProAspCys
NM_001195800.1:c.314-1805_314-1804insTCAGGGAAACCCGACTGC NP_001182729.1:n.314-1805_314-1804insTCAGGGAAACCCGACTGC
NM_001195803.1:c.314-978_314-977insTCAGGGAAACCCGACTGC NP_001182732.1:n.314-978_314-977insTCAGGGAAACCCGACTGC
XM_011528010.1:c.681_682insTCAGGGAAACCCGACTGC XP_011526312.1:p.Asp227_Glu228insSerGlyLysProAspCys
XM_011528011.1:c.314-978_314-977insTCAGGGAAACCCGACTGC XP_011526313.1:n.314-978_314-977insTCAGGGAAACCCGACTGC
XR_244074.2:n.831_832insTCAGGGAAACCCGACTGC
XM_011528010.2:c.681_682insTCAGGGAAACCCGACTGC XP_011526312.1:p.Asp227_Glu228insSerGlyLysProAspCys
XR_001753685.2:n.798_799insTCAGGGAAACCCGACTGC
XR_001753686.2:n.798_799insTCAGGGAAACCCGACTGC
NM_000527.5:c.681_682insTCAGGGAAACCCGACTGC MANE Select NP_000518.1:p.Asp227_Glu228insSerGlyLysProAspCys
NM_001195798.2:c.681_682insTCAGGGAAACCCGACTGC NP_001182727.1:p.Asp227_Glu228insSerGlyLysProAspCys
NM_001195799.2:c.558_559insTCAGGGAAACCCGACTGC NP_001182728.1:p.Asp186_Glu187insSerGlyLysProAspCys
NM_001195800.2:c.314-1805_314-1804insTCAGGGAAACCCGACTGC NP_001182729.1:n.314-1805_314-1804insTCAGGGAAACCCGACTGC
NM_001195803.2:c.314-978_314-977insTCAGGGAAACCCGACTGC NP_001182732.1:n.314-978_314-977insTCAGGGAAACCCGACTGC
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