Canonical Allele Identifier: CA645509256
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 440557
dbSNP Id: rs1555802822

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11102790_11102802del , CM000681.2:g.11102790_11102802del GRCh38
NC_000019.9:g.11213466_11213478del , CM000681.1:g.11213466_11213478del GRCh37
NC_000019.8:g.11074466_11074478del NCBI36
NG_009060.1:g.18410_18422del , LRG_274:g.18410_18422del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.571+4_571+16del ENSP00000252444.6:n.571+4_571+16del
ENST00000559340.2:c.313+4_313+16del ENSP00000453696.2:n.313+4_313+16del
ENST00000560467.2:c.313+4_313+16del ENSP00000453513.2:n.313+4_313+16del
ENST00000558518.6:c.313+4_313+16del MANE Select ENSP00000454071.1:n.313+4_313+16del
ENST00000252444.9:c.567+4_567+16del
ENST00000455727.6:c.313+4_313+16del ENSP00000397829.2:n.313+4_313+16del
ENST00000535915.5:c.191-2430_191-2418del ENSP00000440520.1:n.191-2430_191-2418del
ENST00000545707.5:c.313+4_313+16del ENSP00000437639.1:n.313+4_313+16del
ENST00000557933.5:c.313+4_313+16del ENSP00000453557.1:n.313+4_313+16del
ENST00000557958.1:n.403_415del
ENST00000558013.5:c.313+4_313+16del ENSP00000453346.1:n.313+4_313+16del
ENST00000558518.5:c.313+4_313+16del ENSP00000454071.1:n.313+4_313+16del
NM_000527.4:c.313+4_313+16del , LRG_274t1:c.313+4_313+16del NP_000518.1:n.313+4_313+16del
NM_001195798.1:c.313+4_313+16del NP_001182727.1:n.313+4_313+16del
NM_001195799.1:c.191-2430_191-2418del NP_001182728.1:n.191-2430_191-2418del
NM_001195800.1:c.313+4_313+16del NP_001182729.1:n.313+4_313+16del
NM_001195803.1:c.313+4_313+16del NP_001182732.1:n.313+4_313+16del
XM_011528010.1:c.313+4_313+16del XP_011526312.1:n.313+4_313+16del
XM_011528011.1:c.313+4_313+16del XP_011526313.1:n.313+4_313+16del
XR_244074.2:n.463+4_463+16del
XM_011528010.2:c.313+4_313+16del XP_011526312.1:n.313+4_313+16del
XR_001753685.2:n.430+4_430+16del
XR_001753686.2:n.430+4_430+16del
NM_000527.5:c.313+4_313+16del MANE Select NP_000518.1:n.313+4_313+16del
NM_001195798.2:c.313+4_313+16del NP_001182727.1:n.313+4_313+16del
NM_001195799.2:c.191-2430_191-2418del NP_001182728.1:n.191-2430_191-2418del
NM_001195800.2:c.313+4_313+16del NP_001182729.1:n.313+4_313+16del
NM_001195803.2:c.313+4_313+16del NP_001182732.1:n.313+4_313+16del