Canonical Allele Identifier: CA2580096712
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2132481
ClinVar RCV Id: RCV003036758

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120503_11120510dup , CM000681.2:g.11120503_11120510dup GRCh38
NC_000019.9:g.11231179_11231186dup , CM000681.1:g.11231179_11231186dup GRCh37
NC_000019.8:g.11092179_11092186dup NCBI36
NG_009060.1:g.36123_36130dup , LRG_274:g.36123_36130dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2379_2386dup ENSP00000252444.6:p.Ser796ThrfsTer2
ENST00000559340.2:c.*190_*197dup ENSP00000453696.2:n.*190_*197dup
ENST00000560467.2:c.2001_2008dup ENSP00000453513.2:p.Ser670ThrfsTer2
ENST00000558518.6:c.2121_2128dup MANE Select ENSP00000454071.1:p.Ser710ThrfsTer2
ENST00000252444.9:c.2375_2382dup
ENST00000455727.6:c.1617_1624dup ENSP00000397829.2:p.Ser542ThrfsTer2
ENST00000535915.5:c.1998_2005dup ENSP00000440520.1:p.Ser669ThrfsTer2
ENST00000545707.5:c.1606+270_1606+277dup ENSP00000437639.1:n.1606+270_1606+277dup
ENST00000557933.5:c.2121_2128dup ENSP00000453557.1:p.Ser710ThrfsTer2
ENST00000558013.5:c.2121_2128dup ENSP00000453346.1:p.Ser710ThrfsTer2
ENST00000558518.5:c.2121_2128dup ENSP00000454071.1:p.Ser710ThrfsTer2
NM_000527.4:c.2121_2128dup , LRG_274t1:c.2121_2128dup NP_000518.1:p.Ser710ThrfsTer2
NM_001195798.1:c.2121_2128dup NP_001182727.1:p.Ser710ThrfsTer2
NM_001195799.1:c.1998_2005dup NP_001182728.1:p.Ser669ThrfsTer2
NM_001195800.1:c.1617_1624dup NP_001182729.1:p.Ser542ThrfsTer2
NM_001195803.1:c.1606+270_1606+277dup NP_001182732.1:n.1606+270_1606+277dup
XM_011528010.1:c.2121_2128dup XP_011526312.1:p.Ser710ThrfsTer2
XM_011528011.1:c.1740_1747dup XP_011526313.1:p.Ser583ThrfsTer2
XR_244074.2:n.2131_2138dup
XM_011528010.2:c.2121_2128dup XP_011526312.1:p.Ser710ThrfsTer2
XR_001753685.2:n.2238_2245dup
XR_001753686.2:n.2098_2105dup
NM_000527.5:c.2121_2128dup MANE Select NP_000518.1:p.Ser710ThrfsTer2
NM_001195798.2:c.2121_2128dup NP_001182727.1:p.Ser710ThrfsTer2
NM_001195799.2:c.1998_2005dup NP_001182728.1:p.Ser669ThrfsTer2
NM_001195800.2:c.1617_1624dup NP_001182729.1:p.Ser542ThrfsTer2
NM_001195803.2:c.1606+270_1606+277dup NP_001182732.1:n.1606+270_1606+277dup