Canonical Allele Identifier: CA2322777262
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11123324_11123325delinsTA , CM000681.2:g.11123324_11123325delinsTA GRCh38
NC_000019.9:g.11234000_11234001delinsTA , CM000681.1:g.11234000_11234001delinsTA GRCh37
NC_000019.8:g.11095000_11095001delinsTA NCBI36
NG_009060.1:g.38944_38945delinsTA , LRG_274:g.38944_38945delinsTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2549_2550delinsTA ENSP00000252444.6:p.Ile850=
ENST00000559340.2:c.*360_*361delinsTA ENSP00000453696.2:n.*360_*361delinsTA
ENST00000560467.2:c.2171_2172delinsTA ENSP00000453513.2:p.Ile724=
ENST00000558518.6:c.2291_2292delinsTA MANE Select ENSP00000454071.1:p.Ile764=
ENST00000252444.9:c.2545_2546delinsTA
ENST00000455727.6:c.1787_1788delinsTA ENSP00000397829.2:p.Ile596=
ENST00000535915.5:c.2168_2169delinsTA ENSP00000440520.1:p.Ile723=
ENST00000545707.5:c.1757_1758delinsTA ENSP00000437639.1:p.Ile586=
ENST00000557933.5:c.2291_2292delinsTA ENSP00000453557.1:p.Ile764=
ENST00000558013.5:c.2291_2292delinsTA ENSP00000453346.1:p.Ile764=
ENST00000558518.5:c.2291_2292delinsTA ENSP00000454071.1:p.Ile764=
NM_000527.4:c.2291_2292delinsTA , LRG_274t1:c.2291_2292delinsTA NP_000518.1:p.Ile764=
NM_001195798.1:c.2291_2292delinsTA NP_001182727.1:p.Ile764=
NM_001195799.1:c.2168_2169delinsTA NP_001182728.1:p.Ile723=
NM_001195800.1:c.1787_1788delinsTA NP_001182729.1:p.Ile596=
NM_001195803.1:c.1757_1758delinsTA NP_001182732.1:p.Ile586=
XM_011528010.1:c.2291_2292delinsTA XP_011526312.1:p.Ile764=
XM_011528011.1:c.1910_1911delinsTA XP_011526313.1:p.Ile637=
XR_244074.2:n.2301_2302delinsTA
XM_011528010.2:c.2291_2292delinsTA XP_011526312.1:p.Ile764=
XR_001753685.2:n.2625_2626delinsTA
XR_001753686.2:n.2268_2269delinsTA
NM_000527.5:c.2291_2292delinsTA MANE Select NP_000518.1:p.Ile764=
NM_001195798.2:c.2291_2292delinsTA NP_001182727.1:p.Ile764=
NM_001195799.2:c.2168_2169delinsTA NP_001182728.1:p.Ile723=
NM_001195800.2:c.1787_1788delinsTA NP_001182729.1:p.Ile596=
NM_001195803.2:c.1757_1758delinsTA NP_001182732.1:p.Ile586=