Canonical Allele Identifier: CA2322773699
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11116925_11116928delinsACGG , CM000681.2:g.11116925_11116928delinsACGG GRCh38
NC_000019.9:g.11227601_11227604delinsACGG , CM000681.1:g.11227601_11227604delinsACGG GRCh37
NC_000019.8:g.11088601_11088604delinsACGG NCBI36
NG_009060.1:g.32545_32548delinsACGG , LRG_274:g.32545_32548delinsACGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2030_2033delinsACGG ENSP00000252444.6:p.Asn677=
ENST00000559340.2:c.1705+713_1705+716delinsACGG ENSP00000453696.2:n.1705+713_1705+716delinsACGG
ENST00000560467.2:c.1652_1655delinsACGG ENSP00000453513.2:p.Asn551=
ENST00000558518.6:c.1772_1775delinsACGG MANE Select ENSP00000454071.1:p.Asn591=
ENST00000252444.9:c.2026_2029delinsACGG
ENST00000455727.6:c.1268_1271delinsACGG ENSP00000397829.2:p.Asn423=
ENST00000535915.5:c.1649_1652delinsACGG ENSP00000440520.1:p.Asn550=
ENST00000545707.5:c.1391_1394delinsACGG ENSP00000437639.1:p.Asn464=
ENST00000557933.5:c.1772_1775delinsACGG ENSP00000453557.1:p.Asn591=
ENST00000558013.5:c.1772_1775delinsACGG ENSP00000453346.1:p.Asn591=
ENST00000558518.5:c.1772_1775delinsACGG ENSP00000454071.1:p.Asn591=
ENST00000559340.1:c.426+713_426+716delinsACGG
NM_000527.4:c.1772_1775delinsACGG , LRG_274t1:c.1772_1775delinsACGG NP_000518.1:p.Asn591=
NM_001195798.1:c.1772_1775delinsACGG NP_001182727.1:p.Asn591=
NM_001195799.1:c.1649_1652delinsACGG NP_001182728.1:p.Asn550=
NM_001195800.1:c.1268_1271delinsACGG NP_001182729.1:p.Asn423=
NM_001195803.1:c.1391_1394delinsACGG NP_001182732.1:p.Asn464=
XM_011528010.1:c.1772_1775delinsACGG XP_011526312.1:p.Asn591=
XM_011528011.1:c.1391_1394delinsACGG XP_011526313.1:p.Asn464=
XR_244074.2:n.1855+713_1855+716delinsACGG
XM_011528010.2:c.1772_1775delinsACGG XP_011526312.1:p.Asn591=
XR_001753685.2:n.1889_1892delinsACGG
XR_001753686.2:n.1822+713_1822+716delinsACGG
NM_000527.5:c.1772_1775delinsACGG MANE Select NP_000518.1:p.Asn591=
NM_001195798.2:c.1772_1775delinsACGG NP_001182727.1:p.Asn591=
NM_001195799.2:c.1649_1652delinsACGG NP_001182728.1:p.Asn550=
NM_001195800.2:c.1268_1271delinsACGG NP_001182729.1:p.Asn423=
NM_001195803.2:c.1391_1394delinsACGG NP_001182732.1:p.Asn464=