Canonical Allele Identifier: CA2695238674
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11111522_11111540dup , CM000681.2:g.11111522_11111540dup GRCh38
NC_000019.9:g.11222198_11222216dup , CM000681.1:g.11222198_11222216dup GRCh37
NC_000019.8:g.11083198_11083216dup NCBI36
NG_009060.1:g.27142_27160dup , LRG_274:g.27142_27160dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1327_1345dup ENSP00000252444.6:p.Thr449ArgfsTer24
ENST00000559340.2:c.1069_1087dup ENSP00000453696.2:p.Thr363ArgfsTer24
ENST00000560467.2:c.949_967dup ENSP00000453513.2:p.Thr323ArgfsTer24
ENST00000558518.6:c.1069_1087dup MANE Select ENSP00000454071.1:p.Thr363ArgfsTer24
ENST00000252444.9:c.1323_1341dup
ENST00000455727.6:c.565_583dup ENSP00000397829.2:p.Thr195ArgfsTer24
ENST00000535915.5:c.946_964dup ENSP00000440520.1:p.Thr322ArgfsTer24
ENST00000545707.5:c.688_706dup ENSP00000437639.1:p.Thr236ArgfsTer24
ENST00000557933.5:c.1069_1087dup ENSP00000453557.1:p.Thr363ArgfsTer24
ENST00000558013.5:c.1069_1087dup ENSP00000453346.1:p.Thr363ArgfsTer24
ENST00000558518.5:c.1069_1087dup ENSP00000454071.1:p.Thr363ArgfsTer24
ENST00000560173.1:n.68_86dup
ENST00000560467.1:c.549_567dup
NM_000527.4:c.1069_1087dup , LRG_274t1:c.1069_1087dup NP_000518.1:p.Thr363ArgfsTer24
NM_001195798.1:c.1069_1087dup NP_001182727.1:p.Thr363ArgfsTer24
NM_001195799.1:c.946_964dup NP_001182728.1:p.Thr322ArgfsTer24
NM_001195800.1:c.565_583dup NP_001182729.1:p.Thr195ArgfsTer24
NM_001195803.1:c.688_706dup NP_001182732.1:p.Thr236ArgfsTer24
XM_011528010.1:c.1069_1087dup XP_011526312.1:p.Thr363ArgfsTer24
XM_011528011.1:c.688_706dup XP_011526313.1:p.Thr236ArgfsTer24
XR_244074.2:n.1219_1237dup
XM_011528010.2:c.1069_1087dup XP_011526312.1:p.Thr363ArgfsTer24
XR_001753685.2:n.1186_1204dup
XR_001753686.2:n.1186_1204dup
NM_000527.5:c.1069_1087dup MANE Select NP_000518.1:p.Thr363ArgfsTer24
NM_001195798.2:c.1069_1087dup NP_001182727.1:p.Thr363ArgfsTer24
NM_001195799.2:c.946_964dup NP_001182728.1:p.Thr322ArgfsTer24
NM_001195800.2:c.565_583dup NP_001182729.1:p.Thr195ArgfsTer24
NM_001195803.2:c.688_706dup NP_001182732.1:p.Thr236ArgfsTer24