Canonical Allele Identifier: CA2573131732
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113376_11113380dup , CM000681.2:g.11113376_11113380dup GRCh38
NC_000019.9:g.11224052_11224056dup , CM000681.1:g.11224052_11224056dup GRCh37
NC_000019.8:g.11085052_11085056dup NCBI36
NG_009060.1:g.28996_29000dup , LRG_274:g.28996_29000dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1543_1547dup ENSP00000252444.6:p.Ala517TrpfsTer22
ENST00000559340.2:c.1285_1289dup ENSP00000453696.2:p.Ala431TrpfsTer22
ENST00000560467.2:c.1165_1169dup ENSP00000453513.2:p.Ala391TrpfsTer22
ENST00000558518.6:c.1285_1289dup MANE Select ENSP00000454071.1:p.Ala431TrpfsTer22
ENST00000252444.9:c.1539_1543dup
ENST00000455727.6:c.781_785dup ENSP00000397829.2:p.Ala263TrpfsTer22
ENST00000535915.5:c.1162_1166dup ENSP00000440520.1:p.Ala390TrpfsTer22
ENST00000545707.5:c.904_908dup ENSP00000437639.1:p.Ala304TrpfsTer22
ENST00000557933.5:c.1285_1289dup ENSP00000453557.1:p.Ala431TrpfsTer22
ENST00000558013.5:c.1285_1289dup ENSP00000453346.1:p.Ala431TrpfsTer22
ENST00000558518.5:c.1285_1289dup ENSP00000454071.1:p.Ala431TrpfsTer22
ENST00000559340.1:c.6_10dup
ENST00000560173.1:n.284_288dup
ENST00000560467.1:c.765_769dup
NM_000527.4:c.1285_1289dup , LRG_274t1:c.1285_1289dup NP_000518.1:p.Ala431TrpfsTer22
NM_001195798.1:c.1285_1289dup NP_001182727.1:p.Ala431TrpfsTer22
NM_001195799.1:c.1162_1166dup NP_001182728.1:p.Ala390TrpfsTer22
NM_001195800.1:c.781_785dup NP_001182729.1:p.Ala263TrpfsTer22
NM_001195803.1:c.904_908dup NP_001182732.1:p.Ala304TrpfsTer22
XM_011528010.1:c.1285_1289dup XP_011526312.1:p.Ala431TrpfsTer22
XM_011528011.1:c.904_908dup XP_011526313.1:p.Ala304TrpfsTer22
XR_244074.2:n.1435_1439dup
XM_011528010.2:c.1285_1289dup XP_011526312.1:p.Ala431TrpfsTer22
XR_001753685.2:n.1402_1406dup
XR_001753686.2:n.1402_1406dup
NM_000527.5:c.1285_1289dup MANE Select NP_000518.1:p.Ala431TrpfsTer22
NM_001195798.2:c.1285_1289dup NP_001182727.1:p.Ala431TrpfsTer22
NM_001195799.2:c.1162_1166dup NP_001182728.1:p.Ala390TrpfsTer22
NM_001195800.2:c.781_785dup NP_001182729.1:p.Ala263TrpfsTer22
NM_001195803.2:c.904_908dup NP_001182732.1:p.Ala304TrpfsTer22