Canonical Allele Identifier: CA2322780249
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129520_11129538delinsCGTCTTCCTTTGCCTGGGG , CM000681.2:g.11129520_11129538delinsCGTCTTCCTTTGCCTGGGG GRCh38
NC_000019.9:g.11240196_11240214delinsCGTCTTCCTTTGCCTGGGG , CM000681.1:g.11240196_11240214delinsCGTCTTCCTTTGCCTGGGG GRCh37
NC_000019.8:g.11101196_11101214delinsCGTCTTCCTTTGCCTGGGG NCBI36
NG_009060.1:g.45140_45158delinsCGTCTTCCTTTGCCTGGGG , LRG_274:g.45140_45158delinsCGTCTTCCTTTGCCTGGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2655_2673delinsCGTCTTCCTTTGCCTGGGG ENSP00000252444.6:p.Leu885=
ENST00000559340.2:c.*466_*484delinsCGTCTTCCTTTGCCTGGGG ENSP00000453696.2:n.*466_*484delinsCGTCTTCCTTTGCCTGGGG
ENST00000560467.2:c.2277_2295delinsCGTCTTCCTTTGCCTGGGG ENSP00000453513.2:p.Leu759=
ENST00000558518.6:c.2397_2415delinsCGTCTTCCTTTGCCTGGGG MANE Select ENSP00000454071.1:p.Leu799=
ENST00000252444.9:c.2651_2669delinsCGTCTTCCTTTGCCTGGGG
ENST00000455727.6:c.1893_1911delinsCGTCTTCCTTTGCCTGGGG ENSP00000397829.2:p.Leu631=
ENST00000535915.5:c.2274_2292delinsCGTCTTCCTTTGCCTGGGG ENSP00000440520.1:p.Leu758=
ENST00000545707.5:c.1863_1881delinsCGTCTTCCTTTGCCTGGGG ENSP00000437639.1:p.Leu621=
ENST00000557933.5:c.2459_2477delinsCGTCTTCCTTTGCCTGGGG ENSP00000453557.1:p.Ser820=
ENST00000558013.5:c.2397_2415delinsCGTCTTCCTTTGCCTGGGG ENSP00000453346.1:p.Leu799=
ENST00000558518.5:c.2397_2415delinsCGTCTTCCTTTGCCTGGGG ENSP00000454071.1:p.Leu799=
ENST00000560628.1:n.108+1866_108+1884delinsCGTCTTCCTTTGCCTGGGG
NM_000527.4:c.2397_2415delinsCGTCTTCCTTTGCCTGGGG , LRG_274t1:c.2397_2415delinsCGTCTTCCTTTGCCTGGGG NP_000518.1:p.Leu799=
NM_001195798.1:c.2397_2415delinsCGTCTTCCTTTGCCTGGGG NP_001182727.1:p.Leu799=
NM_001195799.1:c.2274_2292delinsCGTCTTCCTTTGCCTGGGG NP_001182728.1:p.Leu758=
NM_001195800.1:c.1893_1911delinsCGTCTTCCTTTGCCTGGGG NP_001182729.1:p.Leu631=
NM_001195803.1:c.1863_1881delinsCGTCTTCCTTTGCCTGGGG NP_001182732.1:p.Leu621=
XM_011528010.1:c.2319_2337delinsCGTCTTCCTTTGCCTGGGG XP_011526312.1:p.Leu773=
XM_011528011.1:c.2016_2034delinsCGTCTTCCTTTGCCTGGGG XP_011526313.1:p.Leu672=
XR_244074.2:n.2407_2425delinsCGTCTTCCTTTGCCTGGGG
XM_011528010.2:c.2319_2337delinsCGTCTTCCTTTGCCTGGGG XP_011526312.1:p.Leu773=
XR_001753685.2:n.2731_2749delinsCGTCTTCCTTTGCCTGGGG
XR_001753686.2:n.2374_2392delinsCGTCTTCCTTTGCCTGGGG
NM_000527.5:c.2397_2415delinsCGTCTTCCTTTGCCTGGGG MANE Select NP_000518.1:p.Leu799=
NM_001195798.2:c.2397_2415delinsCGTCTTCCTTTGCCTGGGG NP_001182727.1:p.Leu799=
NM_001195799.2:c.2274_2292delinsCGTCTTCCTTTGCCTGGGG NP_001182728.1:p.Leu758=
NM_001195800.2:c.1893_1911delinsCGTCTTCCTTTGCCTGGGG NP_001182729.1:p.Leu631=
NM_001195803.2:c.1863_1881delinsCGTCTTCCTTTGCCTGGGG NP_001182732.1:p.Leu621=