Canonical Allele Identifier: CA631769765
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11127958_11127959insCGG , CM000681.2:g.11127958_11127959insCGG GRCh38
NC_000019.9:g.11238634_11238635insCGG , CM000681.1:g.11238634_11238635insCGG GRCh37
NC_000019.8:g.11099634_11099635insCGG NCBI36
NG_009060.1:g.43578_43579insCGG , LRG_274:g.43578_43579insCGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2570-50_2570-49insCGG ENSP00000252444.6:n.2570-50_2570-49insCGG
ENST00000559340.2:c.*381-50_*381-49insCGG ENSP00000453696.2:n.*381-50_*381-49insCGG
ENST00000560467.2:c.2192-50_2192-49insCGG ENSP00000453513.2:n.2192-50_2192-49insCGG
ENST00000558518.6:c.2312-50_2312-49insCGG MANE Select ENSP00000454071.1:n.2312-50_2312-49insCGG
ENST00000252444.9:c.2566-50_2566-49insCGG
ENST00000455727.6:c.1808-50_1808-49insCGG ENSP00000397829.2:n.1808-50_1808-49insCGG
ENST00000535915.5:c.2189-50_2189-49insCGG ENSP00000440520.1:n.2189-50_2189-49insCGG
ENST00000545707.5:c.1778-50_1778-49insCGG ENSP00000437639.1:n.1778-50_1778-49insCGG
ENST00000557933.5:c.2312-50_2312-49insCGG ENSP00000453557.1:n.2312-50_2312-49insCGG
ENST00000558013.5:c.2312-50_2312-49insCGG ENSP00000453346.1:n.2312-50_2312-49insCGG
ENST00000558518.5:c.2312-50_2312-49insCGG ENSP00000454071.1:n.2312-50_2312-49insCGG
ENST00000560628.1:n.108+304_108+305insCGG
NM_000527.4:c.2312-50_2312-49insCGG , LRG_274t1:c.2312-50_2312-49insCGG NP_000518.1:n.2312-50_2312-49insCGG
NM_001195798.1:c.2312-50_2312-49insCGG NP_001182727.1:n.2312-50_2312-49insCGG
NM_001195799.1:c.2189-50_2189-49insCGG NP_001182728.1:n.2189-50_2189-49insCGG
NM_001195800.1:c.1808-50_1808-49insCGG NP_001182729.1:n.1808-50_1808-49insCGG
NM_001195803.1:c.1778-50_1778-49insCGG NP_001182732.1:n.1778-50_1778-49insCGG
XM_011528010.1:c.2312-1555_2312-1554insCGG XP_011526312.1:n.2312-1555_2312-1554insCGG
XM_011528011.1:c.1931-50_1931-49insCGG XP_011526313.1:n.1931-50_1931-49insCGG
XR_244074.2:n.2322-50_2322-49insCGG
XM_011528010.2:c.2312-1555_2312-1554insCGG XP_011526312.1:n.2312-1555_2312-1554insCGG
XR_001753685.2:n.2646-50_2646-49insCGG
XR_001753686.2:n.2289-50_2289-49insCGG
NM_000527.5:c.2312-50_2312-49insCGG MANE Select NP_000518.1:n.2312-50_2312-49insCGG
NM_001195798.2:c.2312-50_2312-49insCGG NP_001182727.1:n.2312-50_2312-49insCGG
NM_001195799.2:c.2189-50_2189-49insCGG NP_001182728.1:n.2189-50_2189-49insCGG
NM_001195800.2:c.1808-50_1808-49insCGG NP_001182729.1:n.1808-50_1808-49insCGG
NM_001195803.2:c.1778-50_1778-49insCGG NP_001182732.1:n.1778-50_1778-49insCGG