Canonical Allele Identifier: CA2322773698
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11116925_11116927delinsACG , CM000681.2:g.11116925_11116927delinsACG GRCh38
NC_000019.9:g.11227601_11227603delinsACG , CM000681.1:g.11227601_11227603delinsACG GRCh37
NC_000019.8:g.11088601_11088603delinsACG NCBI36
NG_009060.1:g.32545_32547delinsACG , LRG_274:g.32545_32547delinsACG

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2030_2032delinsACG ENSP00000252444.6:p.Asn677=
ENST00000559340.2:c.1705+713_1705+715delinsACG ENSP00000453696.2:n.1705+713_1705+715delinsACG
ENST00000560467.2:c.1652_1654delinsACG ENSP00000453513.2:p.Asn551=
ENST00000558518.6:c.1772_1774delinsACG MANE Select ENSP00000454071.1:p.Asn591=
ENST00000252444.9:c.2026_2028delinsACG
ENST00000455727.6:c.1268_1270delinsACG ENSP00000397829.2:p.Asn423=
ENST00000535915.5:c.1649_1651delinsACG ENSP00000440520.1:p.Asn550=
ENST00000545707.5:c.1391_1393delinsACG ENSP00000437639.1:p.Asn464=
ENST00000557933.5:c.1772_1774delinsACG ENSP00000453557.1:p.Asn591=
ENST00000558013.5:c.1772_1774delinsACG ENSP00000453346.1:p.Asn591=
ENST00000558518.5:c.1772_1774delinsACG ENSP00000454071.1:p.Asn591=
ENST00000559340.1:c.426+713_426+715delinsACG
NM_000527.4:c.1772_1774delinsACG , LRG_274t1:c.1772_1774delinsACG NP_000518.1:p.Asn591=
NM_001195798.1:c.1772_1774delinsACG NP_001182727.1:p.Asn591=
NM_001195799.1:c.1649_1651delinsACG NP_001182728.1:p.Asn550=
NM_001195800.1:c.1268_1270delinsACG NP_001182729.1:p.Asn423=
NM_001195803.1:c.1391_1393delinsACG NP_001182732.1:p.Asn464=
XM_011528010.1:c.1772_1774delinsACG XP_011526312.1:p.Asn591=
XM_011528011.1:c.1391_1393delinsACG XP_011526313.1:p.Asn464=
XR_244074.2:n.1855+713_1855+715delinsACG
XM_011528010.2:c.1772_1774delinsACG XP_011526312.1:p.Asn591=
XR_001753685.2:n.1889_1891delinsACG
XR_001753686.2:n.1822+713_1822+715delinsACG
NM_000527.5:c.1772_1774delinsACG MANE Select NP_000518.1:p.Asn591=
NM_001195798.2:c.1772_1774delinsACG NP_001182727.1:p.Asn591=
NM_001195799.2:c.1649_1651delinsACG NP_001182728.1:p.Asn550=
NM_001195800.2:c.1268_1270delinsACG NP_001182729.1:p.Asn423=
NM_001195803.2:c.1391_1393delinsACG NP_001182732.1:p.Asn464=