Canonical Allele Identifier: CA2322773744
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11116979_11116982delinsTCTC , CM000681.2:g.11116979_11116982delinsTCTC GRCh38
NC_000019.9:g.11227655_11227658delinsTCTC , CM000681.1:g.11227655_11227658delinsTCTC GRCh37
NC_000019.8:g.11088655_11088658delinsTCTC NCBI36
NG_009060.1:g.32599_32602delinsTCTC , LRG_274:g.32599_32602delinsTCTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2084_2087delinsTCTC ENSP00000252444.6:p.Phe695=
ENST00000559340.2:c.1705+767_1705+770delinsTCTC ENSP00000453696.2:n.1705+767_1705+770delinsTCTC
ENST00000560467.2:c.1706_1709delinsTCTC ENSP00000453513.2:p.Phe569=
ENST00000558518.6:c.1826_1829delinsTCTC MANE Select ENSP00000454071.1:p.Phe609=
ENST00000252444.9:c.2080_2083delinsTCTC
ENST00000455727.6:c.1322_1325delinsTCTC ENSP00000397829.2:p.Phe441=
ENST00000535915.5:c.1703_1706delinsTCTC ENSP00000440520.1:p.Phe568=
ENST00000545707.5:c.1445_1448delinsTCTC ENSP00000437639.1:p.Phe482=
ENST00000557933.5:c.1826_1829delinsTCTC ENSP00000453557.1:p.Phe609=
ENST00000558013.5:c.1826_1829delinsTCTC ENSP00000453346.1:p.Phe609=
ENST00000558518.5:c.1826_1829delinsTCTC ENSP00000454071.1:p.Phe609=
ENST00000559340.1:c.426+767_426+770delinsTCTC
NM_000527.4:c.1826_1829delinsTCTC , LRG_274t1:c.1826_1829delinsTCTC NP_000518.1:p.Phe609=
NM_001195798.1:c.1826_1829delinsTCTC NP_001182727.1:p.Phe609=
NM_001195799.1:c.1703_1706delinsTCTC NP_001182728.1:p.Phe568=
NM_001195800.1:c.1322_1325delinsTCTC NP_001182729.1:p.Phe441=
NM_001195803.1:c.1445_1448delinsTCTC NP_001182732.1:p.Phe482=
XM_011528010.1:c.1826_1829delinsTCTC XP_011526312.1:p.Phe609=
XM_011528011.1:c.1445_1448delinsTCTC XP_011526313.1:p.Phe482=
XR_244074.2:n.1855+767_1855+770delinsTCTC
XM_011528010.2:c.1826_1829delinsTCTC XP_011526312.1:p.Phe609=
XR_001753685.2:n.1943_1946delinsTCTC
XR_001753686.2:n.1822+767_1822+770delinsTCTC
NM_000527.5:c.1826_1829delinsTCTC MANE Select NP_000518.1:p.Phe609=
NM_001195798.2:c.1826_1829delinsTCTC NP_001182727.1:p.Phe609=
NM_001195799.2:c.1703_1706delinsTCTC NP_001182728.1:p.Phe568=
NM_001195800.2:c.1322_1325delinsTCTC NP_001182729.1:p.Phe441=
NM_001195803.2:c.1445_1448delinsTCTC NP_001182732.1:p.Phe482=