Canonical Allele Identifier: CA2695228317
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11123225_11123237dup , CM000681.2:g.11123225_11123237dup GRCh38
NC_000019.9:g.11233901_11233913dup , CM000681.1:g.11233901_11233913dup GRCh37
NC_000019.8:g.11094901_11094913dup NCBI36
NG_009060.1:g.38845_38857dup , LRG_274:g.38845_38857dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2450_2462dup ENSP00000252444.6:p.Val822GlnfsTer?
ENST00000559340.2:c.*261_*273dup ENSP00000453696.2:n.*261_*273dup
ENST00000560467.2:c.2072_2084dup ENSP00000453513.2:p.Val696GlnfsTer?
ENST00000558518.6:c.2192_2204dup MANE Select ENSP00000454071.1:p.Val736GlnfsTer?
ENST00000252444.9:c.2446_2458dup
ENST00000455727.6:c.1688_1700dup ENSP00000397829.2:p.Val568GlnfsTer?
ENST00000535915.5:c.2069_2081dup ENSP00000440520.1:p.Val695GlnfsTer?
ENST00000545707.5:c.1658_1670dup ENSP00000437639.1:p.Val558GlnfsTer?
ENST00000557933.5:c.2192_2204dup ENSP00000453557.1:p.Val736GlnfsTer?
ENST00000558013.5:c.2192_2204dup ENSP00000453346.1:p.Val736GlnfsTer?
ENST00000558518.5:c.2192_2204dup ENSP00000454071.1:p.Val736GlnfsTer?
NM_000527.4:c.2192_2204dup , LRG_274t1:c.2192_2204dup NP_000518.1:p.Val736GlnfsTer?
NM_001195798.1:c.2192_2204dup NP_001182727.1:p.Val736GlnfsTer?
NM_001195799.1:c.2069_2081dup NP_001182728.1:p.Val695GlnfsTer?
NM_001195800.1:c.1688_1700dup NP_001182729.1:p.Val568GlnfsTer?
NM_001195803.1:c.1658_1670dup NP_001182732.1:p.Val558GlnfsTer?
XM_011528010.1:c.2192_2204dup XP_011526312.1:p.Val736GlnfsTer?
XM_011528011.1:c.1811_1823dup XP_011526313.1:p.Val609GlnfsTer?
XR_244074.2:n.2202_2214dup
XM_011528010.2:c.2192_2204dup XP_011526312.1:p.Val736GlnfsTer?
XR_001753685.2:n.2526_2538dup
XR_001753686.2:n.2169_2181dup
NM_000527.5:c.2192_2204dup MANE Select NP_000518.1:p.Val736GlnfsTer?
NM_001195798.2:c.2192_2204dup NP_001182727.1:p.Val736GlnfsTer?
NM_001195799.2:c.2069_2081dup NP_001182728.1:p.Val695GlnfsTer?
NM_001195800.2:c.1688_1700dup NP_001182729.1:p.Val568GlnfsTer?
NM_001195803.2:c.1658_1670dup NP_001182732.1:p.Val558GlnfsTer?