Canonical Allele Identifier: CA2573130222
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105568_11105571dup , CM000681.2:g.11105568_11105571dup GRCh38
NC_000019.9:g.11216244_11216247dup , CM000681.1:g.11216244_11216247dup GRCh37
NC_000019.8:g.11077244_11077247dup NCBI36
NG_009060.1:g.21188_21191dup , LRG_274:g.21188_21191dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.920_923dup ENSP00000252444.6:p.Cys308Ter
ENST00000559340.2:c.662_665dup ENSP00000453696.2:p.Cys222Ter
ENST00000560467.2:c.662_665dup ENSP00000453513.2:p.Cys222Ter
ENST00000558518.6:c.662_665dup MANE Select ENSP00000454071.1:p.Cys222Ter
ENST00000252444.9:c.916_919dup
ENST00000455727.6:c.314-1824_314-1821dup ENSP00000397829.2:n.314-1824_314-1821dup
ENST00000535915.5:c.539_542dup ENSP00000440520.1:p.Cys181Ter
ENST00000545707.5:c.314-997_314-994dup ENSP00000437639.1:n.314-997_314-994dup
ENST00000557933.5:c.662_665dup ENSP00000453557.1:p.Cys222Ter
ENST00000558013.5:c.662_665dup ENSP00000453346.1:p.Cys222Ter
ENST00000558518.5:c.662_665dup ENSP00000454071.1:p.Cys222Ter
ENST00000560467.1:c.262_265dup
NM_000527.4:c.662_665dup , LRG_274t1:c.662_665dup NP_000518.1:p.Cys222Ter
NM_001195798.1:c.662_665dup NP_001182727.1:p.Cys222Ter
NM_001195799.1:c.539_542dup NP_001182728.1:p.Cys181Ter
NM_001195800.1:c.314-1824_314-1821dup NP_001182729.1:n.314-1824_314-1821dup
NM_001195803.1:c.314-997_314-994dup NP_001182732.1:n.314-997_314-994dup
XM_011528010.1:c.662_665dup XP_011526312.1:p.Cys222Ter
XM_011528011.1:c.314-997_314-994dup XP_011526313.1:n.314-997_314-994dup
XR_244074.2:n.812_815dup
XM_011528010.2:c.662_665dup XP_011526312.1:p.Cys222Ter
XR_001753685.2:n.779_782dup
XR_001753686.2:n.779_782dup
NM_000527.5:c.662_665dup MANE Select NP_000518.1:p.Cys222Ter
NM_001195798.2:c.662_665dup NP_001182727.1:p.Cys222Ter
NM_001195799.2:c.539_542dup NP_001182728.1:p.Cys181Ter
NM_001195800.2:c.314-1824_314-1821dup NP_001182729.1:n.314-1824_314-1821dup
NM_001195803.2:c.314-997_314-994dup NP_001182732.1:n.314-997_314-994dup