Canonical Allele Identifier: CA305296173
Gene: LDLR HGNC NCBI

Linked Data

dbSNP Id: rs1020705811

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11102886_11102897del , CM000681.2:g.11102886_11102897del GRCh38
NC_000019.9:g.11213562_11213573del , CM000681.1:g.11213562_11213573del GRCh37
NC_000019.8:g.11074562_11074573del NCBI36
NG_009060.1:g.18506_18517del , LRG_274:g.18506_18517del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.571+100_571+111del ENSP00000252444.6:n.571+100_571+111del
ENST00000559340.2:c.313+100_313+111del ENSP00000453696.2:n.313+100_313+111del
ENST00000560467.2:c.313+100_313+111del ENSP00000453513.2:n.313+100_313+111del
ENST00000558518.6:c.313+100_313+111del MANE Select ENSP00000454071.1:n.313+100_313+111del
ENST00000252444.9:c.567+100_567+111del
ENST00000455727.6:c.313+100_313+111del ENSP00000397829.2:n.313+100_313+111del
ENST00000535915.5:c.191-2334_191-2323del ENSP00000440520.1:n.191-2334_191-2323del
ENST00000545707.5:c.313+100_313+111del ENSP00000437639.1:n.313+100_313+111del
ENST00000557933.5:c.313+100_313+111del ENSP00000453557.1:n.313+100_313+111del
ENST00000557958.1:n.499_510del
ENST00000558013.5:c.313+100_313+111del ENSP00000453346.1:n.313+100_313+111del
ENST00000558518.5:c.313+100_313+111del ENSP00000454071.1:n.313+100_313+111del
NM_000527.4:c.313+100_313+111del , LRG_274t1:c.313+100_313+111del NP_000518.1:n.313+100_313+111del
NM_001195798.1:c.313+100_313+111del NP_001182727.1:n.313+100_313+111del
NM_001195799.1:c.191-2334_191-2323del NP_001182728.1:n.191-2334_191-2323del
NM_001195800.1:c.313+100_313+111del NP_001182729.1:n.313+100_313+111del
NM_001195803.1:c.313+100_313+111del NP_001182732.1:n.313+100_313+111del
XM_011528010.1:c.313+100_313+111del XP_011526312.1:n.313+100_313+111del
XM_011528011.1:c.313+100_313+111del XP_011526313.1:n.313+100_313+111del
XR_244074.2:n.463+100_463+111del
XM_011528010.2:c.313+100_313+111del XP_011526312.1:n.313+100_313+111del
XR_001753685.2:n.430+100_430+111del
XR_001753686.2:n.430+100_430+111del
NM_000527.5:c.313+100_313+111del MANE Select NP_000518.1:n.313+100_313+111del
NM_001195798.2:c.313+100_313+111del NP_001182727.1:n.313+100_313+111del
NM_001195799.2:c.191-2334_191-2323del NP_001182728.1:n.191-2334_191-2323del
NM_001195800.2:c.313+100_313+111del NP_001182729.1:n.313+100_313+111del
NM_001195803.2:c.313+100_313+111del NP_001182732.1:n.313+100_313+111del