Canonical Allele Identifier: CA2695228322
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11128033_11128034insTTTT , CM000681.2:g.11128033_11128034insTTTT GRCh38
NC_000019.9:g.11238709_11238710insTTTT , CM000681.1:g.11238709_11238710insTTTT GRCh37
NC_000019.8:g.11099709_11099710insTTTT NCBI36
NG_009060.1:g.43653_43654insTTTT , LRG_274:g.43653_43654insTTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2595_2596insTTTT ENSP00000252444.6:p.Asn866PhefsTer2
ENST00000559340.2:c.*406_*407insTTTT ENSP00000453696.2:n.*406_*407insTTTT
ENST00000560467.2:c.2217_2218insTTTT ENSP00000453513.2:p.Asn740PhefsTer2
ENST00000558518.6:c.2337_2338insTTTT MANE Select ENSP00000454071.1:p.Asn780PhefsTer2
ENST00000252444.9:c.2591_2592insTTTT
ENST00000455727.6:c.1833_1834insTTTT ENSP00000397829.2:p.Asn612PhefsTer2
ENST00000535915.5:c.2214_2215insTTTT ENSP00000440520.1:p.Asn739PhefsTer2
ENST00000545707.5:c.1803_1804insTTTT ENSP00000437639.1:p.Asn602PhefsTer2
ENST00000557933.5:c.2337_2338insTTTT ENSP00000453557.1:p.Asn780PhefsTer2
ENST00000558013.5:c.2337_2338insTTTT ENSP00000453346.1:p.Asn780PhefsTer2
ENST00000558518.5:c.2337_2338insTTTT ENSP00000454071.1:p.Asn780PhefsTer2
ENST00000560628.1:n.108+379_108+380insTTTT
NM_000527.4:c.2337_2338insTTTT , LRG_274t1:c.2337_2338insTTTT NP_000518.1:p.Asn780PhefsTer2
NM_001195798.1:c.2337_2338insTTTT NP_001182727.1:p.Asn780PhefsTer2
NM_001195799.1:c.2214_2215insTTTT NP_001182728.1:p.Asn739PhefsTer2
NM_001195800.1:c.1833_1834insTTTT NP_001182729.1:p.Asn612PhefsTer2
NM_001195803.1:c.1803_1804insTTTT NP_001182732.1:p.Asn602PhefsTer2
XM_011528010.1:c.2312-1480_2312-1479insTTTT XP_011526312.1:n.2312-1480_2312-1479insTTTT
XM_011528011.1:c.1956_1957insTTTT XP_011526313.1:p.Asn653PhefsTer2
XR_244074.2:n.2347_2348insTTTT
XM_011528010.2:c.2312-1480_2312-1479insTTTT XP_011526312.1:n.2312-1480_2312-1479insTTTT
XR_001753685.2:n.2671_2672insTTTT
XR_001753686.2:n.2314_2315insTTTT
NM_000527.5:c.2337_2338insTTTT MANE Select NP_000518.1:p.Asn780PhefsTer2
NM_001195798.2:c.2337_2338insTTTT NP_001182727.1:p.Asn780PhefsTer2
NM_001195799.2:c.2214_2215insTTTT NP_001182728.1:p.Asn739PhefsTer2
NM_001195800.2:c.1833_1834insTTTT NP_001182729.1:p.Asn612PhefsTer2
NM_001195803.2:c.1803_1804insTTTT NP_001182732.1:p.Asn602PhefsTer2