Canonical Allele Identifier: CA2322771718
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113323_11113324delinsAG , CM000681.2:g.11113323_11113324delinsAG GRCh38
NC_000019.9:g.11223999_11224000delinsAG , CM000681.1:g.11223999_11224000delinsAG GRCh37
NC_000019.8:g.11084999_11085000delinsAG NCBI36
NG_009060.1:g.28943_28944delinsAG , LRG_274:g.28943_28944delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1490_1491delinsAG ENSP00000252444.6:p.Lys497=
ENST00000559340.2:c.1232_1233delinsAG ENSP00000453696.2:p.Lys411=
ENST00000560467.2:c.1112_1113delinsAG ENSP00000453513.2:p.Lys371=
ENST00000558518.6:c.1232_1233delinsAG MANE Select ENSP00000454071.1:p.Lys411=
ENST00000252444.9:c.1486_1487delinsAG
ENST00000455727.6:c.728_729delinsAG ENSP00000397829.2:p.Lys243=
ENST00000535915.5:c.1109_1110delinsAG ENSP00000440520.1:p.Lys370=
ENST00000545707.5:c.851_852delinsAG ENSP00000437639.1:p.Lys284=
ENST00000557933.5:c.1232_1233delinsAG ENSP00000453557.1:p.Lys411=
ENST00000558013.5:c.1232_1233delinsAG ENSP00000453346.1:p.Lys411=
ENST00000558518.5:c.1232_1233delinsAG ENSP00000454071.1:p.Lys411=
ENST00000560173.1:n.231_232delinsAG
ENST00000560467.1:c.712_713delinsAG
NM_000527.4:c.1232_1233delinsAG , LRG_274t1:c.1232_1233delinsAG NP_000518.1:p.Lys411=
NM_001195798.1:c.1232_1233delinsAG NP_001182727.1:p.Lys411=
NM_001195799.1:c.1109_1110delinsAG NP_001182728.1:p.Lys370=
NM_001195800.1:c.728_729delinsAG NP_001182729.1:p.Lys243=
NM_001195803.1:c.851_852delinsAG NP_001182732.1:p.Lys284=
XM_011528010.1:c.1232_1233delinsAG XP_011526312.1:p.Lys411=
XM_011528011.1:c.851_852delinsAG XP_011526313.1:p.Lys284=
XR_244074.2:n.1382_1383delinsAG
XM_011528010.2:c.1232_1233delinsAG XP_011526312.1:p.Lys411=
XR_001753685.2:n.1349_1350delinsAG
XR_001753686.2:n.1349_1350delinsAG
NM_000527.5:c.1232_1233delinsAG MANE Select NP_000518.1:p.Lys411=
NM_001195798.2:c.1232_1233delinsAG NP_001182727.1:p.Lys411=
NM_001195799.2:c.1109_1110delinsAG NP_001182728.1:p.Lys370=
NM_001195800.2:c.728_729delinsAG NP_001182729.1:p.Lys243=
NM_001195803.2:c.851_852delinsAG NP_001182732.1:p.Lys284=