Canonical Allele Identifier: CA2322767651
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105604_11105615delinsTGGGCGGGGCCA , CM000681.2:g.11105604_11105615delinsTGGGCGGGGCCA GRCh38
NC_000019.9:g.11216280_11216291delinsTGGGCGGGGCCA , CM000681.1:g.11216280_11216291delinsTGGGCGGGGCCA GRCh37
NC_000019.8:g.11077280_11077291delinsTGGGCGGGGCCA NCBI36
NG_009060.1:g.21224_21235delinsTGGGCGGGGCCA , LRG_274:g.21224_21235delinsTGGGCGGGGCCA

Transcript Alleles

HGVS Amino-acid change
ENST00000252444.10:c.952+4_952+15delinsTGGGCGGGGCCA ENSP00000252444.6:n.952+4_952+15delinsTGG...
ENST00000559340.2:c.694+4_694+15delinsTGGGCGGGGCCA ENSP00000453696.2:n.694+4_694+15delinsTGG...
ENST00000560467.2:c.694+4_694+15delinsTGGGCGGGGCCA ENSP00000453513.2:n.694+4_694+15delinsTGG...
ENST00000558518.6:c.694+4_694+15delinsTGGGCGGGGCCA MANE Select ENSP00000454071.1:n.694+4_694+15delinsTGG...
ENST00000252444.9:c.948+4_948+15delinsTGGGCGGGGCCA
ENST00000455727.6:c.314-1788_314-1777delinsTGGGCGGGGCCA ENSP00000397829.2:n.314-1788_314-1777deli...
ENST00000535915.5:c.571+4_571+15delinsTGGGCGGGGCCA ENSP00000440520.1:n.571+4_571+15delinsTGG...
ENST00000545707.5:c.314-961_314-950delinsTGGGCGGGGCCA ENSP00000437639.1:n.314-961_314-950delins...
ENST00000557933.5:c.694+4_694+15delinsTGGGCGGGGCCA ENSP00000453557.1:n.694+4_694+15delinsTGG...
ENST00000558013.5:c.694+4_694+15delinsTGGGCGGGGCCA ENSP00000453346.1:n.694+4_694+15delinsTGG...
ENST00000558518.5:c.694+4_694+15delinsTGGGCGGGGCCA ENSP00000454071.1:n.694+4_694+15delinsTGG...
ENST00000560467.1:c.294+4_294+15delinsTGGGCGGGGCCA
NM_000527.4:c.694+4_694+15delinsTGGGCGGGGCCA , LRG_274t1:c.694+4_694+15delinsTGGGCGGGGCCA NP_000518.1:n.694+4_694+15delinsTGGGCGGGG...
NM_001195798.1:c.694+4_694+15delinsTGGGCGGGGCCA NP_001182727.1:n.694+4_694+15delinsTGGGCG...
NM_001195799.1:c.571+4_571+15delinsTGGGCGGGGCCA NP_001182728.1:n.571+4_571+15delinsTGGGCG...
NM_001195800.1:c.314-1788_314-1777delinsTGGGCGGGGCCA NP_001182729.1:n.314-1788_314-1777delinsT...
NM_001195803.1:c.314-961_314-950delinsTGGGCGGGGCCA NP_001182732.1:n.314-961_314-950delinsTGG...
XM_011528010.1:c.694+4_694+15delinsTGGGCGGGGCCA XP_011526312.1:n.694+4_694+15delinsTGGGCG...
XM_011528011.1:c.314-961_314-950delinsTGGGCGGGGCCA XP_011526313.1:n.314-961_314-950delinsTGG...
XR_244074.2:n.844+4_844+15delinsTGGGCGGGGCCA
XM_011528010.2:c.694+4_694+15delinsTGGGCGGGGCCA XP_011526312.1:n.694+4_694+15delinsTGGGCG...
XR_001753685.2:n.811+4_811+15delinsTGGGCGGGGCCA
XR_001753686.2:n.811+4_811+15delinsTGGGCGGGGCCA
NM_000527.5:c.694+4_694+15delinsTGGGCGGGGCCA MANE Select NP_000518.1:n.694+4_694+15delinsTGGGCGGGG...
NM_001195798.2:c.694+4_694+15delinsTGGGCGGGGCCA NP_001182727.1:n.694+4_694+15delinsTGGGCG...
NM_001195799.2:c.571+4_571+15delinsTGGGCGGGGCCA NP_001182728.1:n.571+4_571+15delinsTGGGCG...
NM_001195800.2:c.314-1788_314-1777delinsTGGGCGGGGCCA NP_001182729.1:n.314-1788_314-1777delinsT...
NM_001195803.2:c.314-961_314-950delinsTGGGCGGGGCCA NP_001182732.1:n.314-961_314-950delinsTGG...