Canonical Allele Identifier: CA783243315
Gene: LDLR HGNC NCBI

Linked Data

dbSNP Id: rs1462788012
gnomAD v3: 19-11105752-TTTTC-T
gnomAD v4: 19-11105752-TTTTC-T
MyVariant Identifiers: chr19:g.11216429_11216432del (hg19) chr19:g.11105753_11105756del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105760_11105763del , CM000681.2:g.11105760_11105763del GRCh38
NC_000019.9:g.11216436_11216439del , CM000681.1:g.11216436_11216439del GRCh37
NC_000019.8:g.11077436_11077439del NCBI36
NG_009060.1:g.21380_21383del , LRG_274:g.21380_21383del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.952+160_952+163del ENSP00000252444.6:n.952+160_952+163del
ENST00000559340.2:c.694+160_694+163del ENSP00000453696.2:n.694+160_694+163del
ENST00000560467.2:c.694+160_694+163del ENSP00000453513.2:n.694+160_694+163del
ENST00000558518.6:c.694+160_694+163del MANE Select ENSP00000454071.1:n.694+160_694+163del
ENST00000252444.9:c.948+160_948+163del
ENST00000455727.6:c.314-1632_314-1629del ENSP00000397829.2:n.314-1632_314-1629del
ENST00000535915.5:c.571+160_571+163del ENSP00000440520.1:n.571+160_571+163del
ENST00000545707.5:c.314-805_314-802del ENSP00000437639.1:n.314-805_314-802del
ENST00000557933.5:c.694+160_694+163del ENSP00000453557.1:n.694+160_694+163del
ENST00000558013.5:c.694+160_694+163del ENSP00000453346.1:n.694+160_694+163del
ENST00000558518.5:c.694+160_694+163del ENSP00000454071.1:n.694+160_694+163del
ENST00000560467.1:c.294+160_294+163del
NM_000527.4:c.694+160_694+163del , LRG_274t1:c.694+160_694+163del NP_000518.1:n.694+160_694+163del
NM_001195798.1:c.694+160_694+163del NP_001182727.1:n.694+160_694+163del
NM_001195799.1:c.571+160_571+163del NP_001182728.1:n.571+160_571+163del
NM_001195800.1:c.314-1632_314-1629del NP_001182729.1:n.314-1632_314-1629del
NM_001195803.1:c.314-805_314-802del NP_001182732.1:n.314-805_314-802del
XM_011528010.1:c.694+160_694+163del XP_011526312.1:n.694+160_694+163del
XM_011528011.1:c.314-805_314-802del XP_011526313.1:n.314-805_314-802del
XR_244074.2:n.844+160_844+163del
XM_011528010.2:c.694+160_694+163del XP_011526312.1:n.694+160_694+163del
XR_001753685.2:n.811+160_811+163del
XR_001753686.2:n.811+160_811+163del
NM_000527.5:c.694+160_694+163del MANE Select NP_000518.1:n.694+160_694+163del
NM_001195798.2:c.694+160_694+163del NP_001182727.1:n.694+160_694+163del
NM_001195799.2:c.571+160_571+163del NP_001182728.1:n.571+160_571+163del
NM_001195800.2:c.314-1632_314-1629del NP_001182729.1:n.314-1632_314-1629del
NM_001195803.2:c.314-805_314-802del NP_001182732.1:n.314-805_314-802del
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