Canonical Allele Identifier: CA2497030102
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11123238_11123239insTT , CM000681.2:g.11123238_11123239insTT GRCh38
NC_000019.9:g.11233914_11233915insTT , CM000681.1:g.11233914_11233915insTT GRCh37
NC_000019.8:g.11094914_11094915insTT NCBI36
NG_009060.1:g.38858_38859insTT , LRG_274:g.38858_38859insTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2463_2464insTT ENSP00000252444.6:p.Val822LeufsTer2
ENST00000559340.2:c.*274_*275insTT ENSP00000453696.2:n.*274_*275insTT
ENST00000560467.2:c.2085_2086insTT ENSP00000453513.2:p.Val696LeufsTer2
ENST00000558518.6:c.2205_2206insTT MANE Select ENSP00000454071.1:p.Val736LeufsTer2
ENST00000252444.9:c.2459_2460insTT
ENST00000455727.6:c.1701_1702insTT ENSP00000397829.2:p.Val568LeufsTer2
ENST00000535915.5:c.2082_2083insTT ENSP00000440520.1:p.Val695LeufsTer2
ENST00000545707.5:c.1671_1672insTT ENSP00000437639.1:p.Val558LeufsTer2
ENST00000557933.5:c.2205_2206insTT ENSP00000453557.1:p.Val736LeufsTer2
ENST00000558013.5:c.2205_2206insTT ENSP00000453346.1:p.Val736LeufsTer2
ENST00000558518.5:c.2205_2206insTT ENSP00000454071.1:p.Val736LeufsTer2
NM_000527.4:c.2205_2206insTT , LRG_274t1:c.2205_2206insTT NP_000518.1:p.Val736LeufsTer2
NM_001195798.1:c.2205_2206insTT NP_001182727.1:p.Val736LeufsTer2
NM_001195799.1:c.2082_2083insTT NP_001182728.1:p.Val695LeufsTer2
NM_001195800.1:c.1701_1702insTT NP_001182729.1:p.Val568LeufsTer2
NM_001195803.1:c.1671_1672insTT NP_001182732.1:p.Val558LeufsTer2
XM_011528010.1:c.2205_2206insTT XP_011526312.1:p.Val736LeufsTer2
XM_011528011.1:c.1824_1825insTT XP_011526313.1:p.Val609LeufsTer2
XR_244074.2:n.2215_2216insTT
XM_011528010.2:c.2205_2206insTT XP_011526312.1:p.Val736LeufsTer2
XR_001753685.2:n.2539_2540insTT
XR_001753686.2:n.2182_2183insTT
NM_000527.5:c.2205_2206insTT MANE Select NP_000518.1:p.Val736LeufsTer2
NM_001195798.2:c.2205_2206insTT NP_001182727.1:p.Val736LeufsTer2
NM_001195799.2:c.2082_2083insTT NP_001182728.1:p.Val695LeufsTer2
NM_001195800.2:c.1701_1702insTT NP_001182729.1:p.Val568LeufsTer2
NM_001195803.2:c.1671_1672insTT NP_001182732.1:p.Val558LeufsTer2