Canonical Allele Identifier: CA2322765471
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11101715_11101716delinsGC , CM000681.2:g.11101715_11101716delinsGC GRCh38
NC_000019.9:g.11212391_11212392delinsGC , CM000681.1:g.11212391_11212392delinsGC GRCh37
NC_000019.8:g.11073391_11073392delinsGC NCBI36
NG_009060.1:g.17335_17336delinsGC , LRG_274:g.17335_17336delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.449-949_449-948delinsGC ENSP00000252444.6:n.449-949_449-948delinsGC
ENST00000559340.2:c.191-949_191-948delinsGC ENSP00000453696.2:n.191-949_191-948delinsGC
ENST00000560467.2:c.191-949_191-948delinsGC ENSP00000453513.2:n.191-949_191-948delinsGC
ENST00000558518.6:c.191-949_191-948delinsGC MANE Select ENSP00000454071.1:n.191-949_191-948delinsGC
ENST00000252444.9:c.445-949_445-948delinsGC
ENST00000455727.6:c.191-949_191-948delinsGC ENSP00000397829.2:n.191-949_191-948delinsGC
ENST00000535915.5:c.190+1370_190+1371delinsGC ENSP00000440520.1:n.190+1370_190+1371delinsGC
ENST00000545707.5:c.191-949_191-948delinsGC ENSP00000437639.1:n.191-949_191-948delinsGC
ENST00000557933.5:c.191-949_191-948delinsGC ENSP00000453557.1:n.191-949_191-948delinsGC
ENST00000557958.1:n.277-949_277-948delinsGC
ENST00000558013.5:c.191-949_191-948delinsGC ENSP00000453346.1:n.191-949_191-948delinsGC
ENST00000558518.5:c.191-949_191-948delinsGC ENSP00000454071.1:n.191-949_191-948delinsGC
NM_000527.4:c.191-949_191-948delinsGC , LRG_274t1:c.191-949_191-948delinsGC NP_000518.1:n.191-949_191-948delinsGC
NM_001195798.1:c.191-949_191-948delinsGC NP_001182727.1:n.191-949_191-948delinsGC
NM_001195799.1:c.190+1370_190+1371delinsGC NP_001182728.1:n.190+1370_190+1371delinsGC
NM_001195800.1:c.191-949_191-948delinsGC NP_001182729.1:n.191-949_191-948delinsGC
NM_001195803.1:c.191-949_191-948delinsGC NP_001182732.1:n.191-949_191-948delinsGC
XM_011528010.1:c.191-949_191-948delinsGC XP_011526312.1:n.191-949_191-948delinsGC
XM_011528011.1:c.191-949_191-948delinsGC XP_011526313.1:n.191-949_191-948delinsGC
XR_244074.2:n.341-949_341-948delinsGC
XM_011528010.2:c.191-949_191-948delinsGC XP_011526312.1:n.191-949_191-948delinsGC
XR_001753685.2:n.308-949_308-948delinsGC
XR_001753686.2:n.308-949_308-948delinsGC
NM_000527.5:c.191-949_191-948delinsGC MANE Select NP_000518.1:n.191-949_191-948delinsGC
NM_001195798.2:c.191-949_191-948delinsGC NP_001182727.1:n.191-949_191-948delinsGC
NM_001195799.2:c.190+1370_190+1371delinsGC NP_001182728.1:n.190+1370_190+1371delinsGC
NM_001195800.2:c.191-949_191-948delinsGC NP_001182729.1:n.191-949_191-948delinsGC
NM_001195803.2:c.191-949_191-948delinsGC NP_001182732.1:n.191-949_191-948delinsGC