Canonical Allele Identifier: CA2322777249
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11123304_11123305delinsTG , CM000681.2:g.11123304_11123305delinsTG GRCh38
NC_000019.9:g.11233980_11233981delinsTG , CM000681.1:g.11233980_11233981delinsTG GRCh37
NC_000019.8:g.11094980_11094981delinsTG NCBI36
NG_009060.1:g.38924_38925delinsTG , LRG_274:g.38924_38925delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2529_2530delinsTG ENSP00000252444.6:p.Pro843=
ENST00000559340.2:c.*340_*341delinsTG ENSP00000453696.2:n.*340_*341delinsTG
ENST00000560467.2:c.2151_2152delinsTG ENSP00000453513.2:p.Pro717=
ENST00000558518.6:c.2271_2272delinsTG MANE Select ENSP00000454071.1:p.Pro757=
ENST00000252444.9:c.2525_2526delinsTG
ENST00000455727.6:c.1767_1768delinsTG ENSP00000397829.2:p.Pro589=
ENST00000535915.5:c.2148_2149delinsTG ENSP00000440520.1:p.Pro716=
ENST00000545707.5:c.1737_1738delinsTG ENSP00000437639.1:p.Pro579=
ENST00000557933.5:c.2271_2272delinsTG ENSP00000453557.1:p.Pro757=
ENST00000558013.5:c.2271_2272delinsTG ENSP00000453346.1:p.Pro757=
ENST00000558518.5:c.2271_2272delinsTG ENSP00000454071.1:p.Pro757=
NM_000527.4:c.2271_2272delinsTG , LRG_274t1:c.2271_2272delinsTG NP_000518.1:p.Pro757=
NM_001195798.1:c.2271_2272delinsTG NP_001182727.1:p.Pro757=
NM_001195799.1:c.2148_2149delinsTG NP_001182728.1:p.Pro716=
NM_001195800.1:c.1767_1768delinsTG NP_001182729.1:p.Pro589=
NM_001195803.1:c.1737_1738delinsTG NP_001182732.1:p.Pro579=
XM_011528010.1:c.2271_2272delinsTG XP_011526312.1:p.Pro757=
XM_011528011.1:c.1890_1891delinsTG XP_011526313.1:p.Pro630=
XR_244074.2:n.2281_2282delinsTG
XM_011528010.2:c.2271_2272delinsTG XP_011526312.1:p.Pro757=
XR_001753685.2:n.2605_2606delinsTG
XR_001753686.2:n.2248_2249delinsTG
NM_000527.5:c.2271_2272delinsTG MANE Select NP_000518.1:p.Pro757=
NM_001195798.2:c.2271_2272delinsTG NP_001182727.1:p.Pro757=
NM_001195799.2:c.2148_2149delinsTG NP_001182728.1:p.Pro716=
NM_001195800.2:c.1767_1768delinsTG NP_001182729.1:p.Pro589=
NM_001195803.2:c.1737_1738delinsTG NP_001182732.1:p.Pro579=