Canonical Allele Identifier: CA2573050592
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11111560_11111564dup , CM000681.2:g.11111560_11111564dup GRCh38
NC_000019.9:g.11222236_11222240dup , CM000681.1:g.11222236_11222240dup GRCh37
NC_000019.8:g.11083236_11083240dup NCBI36
NG_009060.1:g.27180_27184dup , LRG_274:g.27180_27184dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1365_1369dup ENSP00000252444.6:p.Leu457ArgfsTer?
ENST00000559340.2:c.1107_1111dup ENSP00000453696.2:p.Leu371ArgfsTer?
ENST00000560467.2:c.987_991dup ENSP00000453513.2:p.Leu331ArgfsTer?
ENST00000558518.6:c.1107_1111dup MANE Select ENSP00000454071.1:p.Leu371ArgfsTer?
ENST00000252444.9:c.1361_1365dup
ENST00000455727.6:c.603_607dup ENSP00000397829.2:p.Leu203ArgfsTer?
ENST00000535915.5:c.984_988dup ENSP00000440520.1:p.Leu330ArgfsTer?
ENST00000545707.5:c.726_730dup ENSP00000437639.1:p.Leu244ArgfsTer?
ENST00000557933.5:c.1107_1111dup ENSP00000453557.1:p.Leu371ArgfsTer?
ENST00000558013.5:c.1107_1111dup ENSP00000453346.1:p.Leu371ArgfsTer?
ENST00000558518.5:c.1107_1111dup ENSP00000454071.1:p.Leu371ArgfsTer?
ENST00000560173.1:n.106_110dup
ENST00000560467.1:c.587_591dup
NM_000527.4:c.1107_1111dup , LRG_274t1:c.1107_1111dup NP_000518.1:p.Leu371ArgfsTer?
NM_001195798.1:c.1107_1111dup NP_001182727.1:p.Leu371ArgfsTer?
NM_001195799.1:c.984_988dup NP_001182728.1:p.Leu330ArgfsTer?
NM_001195800.1:c.603_607dup NP_001182729.1:p.Leu203ArgfsTer?
NM_001195803.1:c.726_730dup NP_001182732.1:p.Leu244ArgfsTer?
XM_011528010.1:c.1107_1111dup XP_011526312.1:p.Leu371ArgfsTer?
XM_011528011.1:c.726_730dup XP_011526313.1:p.Leu244ArgfsTer?
XR_244074.2:n.1257_1261dup
XM_011528010.2:c.1107_1111dup XP_011526312.1:p.Leu371ArgfsTer?
XR_001753685.2:n.1224_1228dup
XR_001753686.2:n.1224_1228dup
NM_000527.5:c.1107_1111dup MANE Select NP_000518.1:p.Leu371ArgfsTer?
NM_001195798.2:c.1107_1111dup NP_001182727.1:p.Leu371ArgfsTer?
NM_001195799.2:c.984_988dup NP_001182728.1:p.Leu330ArgfsTer?
NM_001195800.2:c.603_607dup NP_001182729.1:p.Leu203ArgfsTer?
NM_001195803.2:c.726_730dup NP_001182732.1:p.Leu244ArgfsTer?