Canonical Allele Identifier: CA2695238677
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105313_11105316dup , CM000681.2:g.11105313_11105316dup GRCh38
NC_000019.9:g.11215989_11215992dup , CM000681.1:g.11215989_11215992dup GRCh37
NC_000019.8:g.11076989_11076992dup NCBI36
NG_009060.1:g.20933_20936dup , LRG_274:g.20933_20936dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.665_668dup ENSP00000252444.6:p.Ser224ArgfsTer?
ENST00000559340.2:c.407_410dup ENSP00000453696.2:p.Ser138ArgfsTer?
ENST00000560467.2:c.407_410dup ENSP00000453513.2:p.Ser138ArgfsTer?
ENST00000558518.6:c.407_410dup MANE Select ENSP00000454071.1:p.Ser138ArgfsTer?
ENST00000252444.9:c.661_664dup
ENST00000455727.6:c.314-2079_314-2076dup ENSP00000397829.2:n.314-2079_314-2076dup
ENST00000535915.5:c.284_287dup ENSP00000440520.1:p.Ser97ArgfsTer?
ENST00000545707.5:c.314-1252_314-1249dup ENSP00000437639.1:n.314-1252_314-1249dup
ENST00000557933.5:c.407_410dup ENSP00000453557.1:p.Ser138ArgfsTer?
ENST00000558013.5:c.407_410dup ENSP00000453346.1:p.Ser138ArgfsTer?
ENST00000558518.5:c.407_410dup ENSP00000454071.1:p.Ser138ArgfsTer?
ENST00000560467.1:c.7_10dup
NM_000527.4:c.407_410dup , LRG_274t1:c.407_410dup NP_000518.1:p.Ser138ArgfsTer?
NM_001195798.1:c.407_410dup NP_001182727.1:p.Ser138ArgfsTer?
NM_001195799.1:c.284_287dup NP_001182728.1:p.Ser97ArgfsTer?
NM_001195800.1:c.314-2079_314-2076dup NP_001182729.1:n.314-2079_314-2076dup
NM_001195803.1:c.314-1252_314-1249dup NP_001182732.1:n.314-1252_314-1249dup
XM_011528010.1:c.407_410dup XP_011526312.1:p.Ser138ArgfsTer?
XM_011528011.1:c.314-1252_314-1249dup XP_011526313.1:n.314-1252_314-1249dup
XR_244074.2:n.557_560dup
XM_011528010.2:c.407_410dup XP_011526312.1:p.Ser138ArgfsTer?
XR_001753685.2:n.524_527dup
XR_001753686.2:n.524_527dup
NM_000527.5:c.407_410dup MANE Select NP_000518.1:p.Ser138ArgfsTer?
NM_001195798.2:c.407_410dup NP_001182727.1:p.Ser138ArgfsTer?
NM_001195799.2:c.284_287dup NP_001182728.1:p.Ser97ArgfsTer?
NM_001195800.2:c.314-2079_314-2076dup NP_001182729.1:n.314-2079_314-2076dup
NM_001195803.2:c.314-1252_314-1249dup NP_001182732.1:n.314-1252_314-1249dup