Canonical Allele Identifier: CA645509292
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 440681
ClinVar RCV Id: RCV000508842
dbSNP Id: rs1555807475
MyVariant Identifiers: chr19:g.11231199_11231210del (hg19) chr19:g.11120523_11120534del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120523_11120534del , CM000681.2:g.11120523_11120534del GRCh38
NC_000019.9:g.11231199_11231210del , CM000681.1:g.11231199_11231210del GRCh37
NC_000019.8:g.11092199_11092210del NCBI36
NG_009060.1:g.36143_36154del , LRG_274:g.36143_36154del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2398+1_2398+12del
ENST00000559340.2:c.*209+1_*209+12del
ENST00000560467.2:c.2020+1_2020+12del
ENST00000558518.6:c.2140+1_2140+12del
ENST00000252444.9:c.2394+1_2394+12del
ENST00000455727.6:c.1636+1_1636+12del
ENST00000535915.5:c.2017+1_2017+12del
ENST00000545707.5:c.1606+290_1606+301del ENSP00000437639.1:n.1606+290_1606+301del
ENST00000557933.5:c.2140+1_2140+12del
ENST00000558013.5:c.2140+1_2140+12del
ENST00000558518.5:c.2140+1_2140+12del
NM_000527.4:c.2140+1_2140+12del , LRG_274t1:c.2140+1_2140+12del
NM_001195798.1:c.2140+1_2140+12del
NM_001195799.1:c.2017+1_2017+12del
NM_001195800.1:c.1636+1_1636+12del
NM_001195803.1:c.1606+290_1606+301del NP_001182732.1:n.1606+290_1606+301del
XM_011528010.1:c.2140+1_2140+12del
XM_011528011.1:c.1759+1_1759+12del
XR_244074.2:n.2150+1_2150+12del
XM_011528010.2:c.2140+1_2140+12del
XR_001753685.2:n.2258_2269del
XR_001753686.2:n.2117+1_2117+12del
NM_000527.5:c.2140+1_2140+12del
NM_001195798.2:c.2140+1_2140+12del
NM_001195799.2:c.2017+1_2017+12del
NM_001195800.2:c.1636+1_1636+12del
NM_001195803.2:c.1606+290_1606+301del NP_001182732.1:n.1606+290_1606+301del
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