Canonical Allele Identifier: CA2695228166
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120198_11120199insG , CM000681.2:g.11120198_11120199insG GRCh38
NC_000019.9:g.11230874_11230875insG , CM000681.1:g.11230874_11230875insG GRCh37
NC_000019.8:g.11091874_11091875insG NCBI36
NG_009060.1:g.35818_35819insG , LRG_274:g.35818_35819insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2210_2211insG ENSP00000252444.6:p.Asp737GlufsTer18
ENST00000559340.2:c.*21_*22insG ENSP00000453696.2:n.*21_*22insG
ENST00000560467.2:c.1832_1833insG ENSP00000453513.2:p.Asp611GlufsTer18
ENST00000558518.6:c.1952_1953insG MANE Select ENSP00000454071.1:p.Asp651GlufsTer18
ENST00000252444.9:c.2206_2207insG
ENST00000455727.6:c.1448_1449insG ENSP00000397829.2:p.Asp483GlufsTer18
ENST00000535915.5:c.1829_1830insG ENSP00000440520.1:p.Asp610GlufsTer18
ENST00000545707.5:c.1571_1572insG ENSP00000437639.1:p.Asp524GlufsTer15
ENST00000557933.5:c.1952_1953insG ENSP00000453557.1:p.Asp651GlufsTer18
ENST00000558013.5:c.1952_1953insG ENSP00000453346.1:p.Asp651GlufsTer18
ENST00000558518.5:c.1952_1953insG ENSP00000454071.1:p.Asp651GlufsTer18
ENST00000559340.1:c.533_534insG
NM_000527.4:c.1952_1953insG , LRG_274t1:c.1952_1953insG NP_000518.1:p.Asp651GlufsTer18
NM_001195798.1:c.1952_1953insG NP_001182727.1:p.Asp651GlufsTer18
NM_001195799.1:c.1829_1830insG NP_001182728.1:p.Asp610GlufsTer18
NM_001195800.1:c.1448_1449insG NP_001182729.1:p.Asp483GlufsTer18
NM_001195803.1:c.1571_1572insG NP_001182732.1:p.Asp524GlufsTer15
XM_011528010.1:c.1952_1953insG XP_011526312.1:p.Asp651GlufsTer18
XM_011528011.1:c.1571_1572insG XP_011526313.1:p.Asp524GlufsTer18
XR_244074.2:n.1962_1963insG
XM_011528010.2:c.1952_1953insG XP_011526312.1:p.Asp651GlufsTer18
XR_001753685.2:n.2069_2070insG
XR_001753686.2:n.1929_1930insG
NM_000527.5:c.1952_1953insG MANE Select NP_000518.1:p.Asp651GlufsTer18
NM_001195798.2:c.1952_1953insG NP_001182727.1:p.Asp651GlufsTer18
NM_001195799.2:c.1829_1830insG NP_001182728.1:p.Asp610GlufsTer18
NM_001195800.2:c.1448_1449insG NP_001182729.1:p.Asp483GlufsTer18
NM_001195803.2:c.1571_1572insG NP_001182732.1:p.Asp524GlufsTer15