Canonical Allele Identifier: CA2582476258
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11128043_11128045dup , CM000681.2:g.11128043_11128045dup GRCh38
NC_000019.9:g.11238719_11238721dup , CM000681.1:g.11238719_11238721dup GRCh37
NC_000019.8:g.11099719_11099721dup NCBI36
NG_009060.1:g.43663_43665dup , LRG_274:g.43663_43665dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2605_2607dup ENSP00000252444.6:p.Lys869_Pro870insLys
ENST00000559340.2:c.*416_*418dup ENSP00000453696.2:n.*416_*418dup
ENST00000560467.2:c.2227_2229dup ENSP00000453513.2:p.Lys743_Pro744insLys
ENST00000558518.6:c.2347_2349dup MANE Select ENSP00000454071.1:p.Lys783_Pro784insLys
ENST00000252444.9:c.2601_2603dup
ENST00000455727.6:c.1843_1845dup ENSP00000397829.2:p.Lys615_Pro616insLys
ENST00000535915.5:c.2224_2226dup ENSP00000440520.1:p.Lys742_Pro743insLys
ENST00000545707.5:c.1813_1815dup ENSP00000437639.1:p.Lys605_Pro606insLys
ENST00000557933.5:c.2347_2349dup ENSP00000453557.1:p.Lys783_Pro784insLys
ENST00000558013.5:c.2347_2349dup ENSP00000453346.1:p.Lys783_Pro784insLys
ENST00000558518.5:c.2347_2349dup ENSP00000454071.1:p.Lys783_Pro784insLys
ENST00000560628.1:n.108+389_108+391dup
NM_000527.4:c.2347_2349dup , LRG_274t1:c.2347_2349dup NP_000518.1:p.Lys783_Pro784insLys
NM_001195798.1:c.2347_2349dup NP_001182727.1:p.Lys783_Pro784insLys
NM_001195799.1:c.2224_2226dup NP_001182728.1:p.Lys742_Pro743insLys
NM_001195800.1:c.1843_1845dup NP_001182729.1:p.Lys615_Pro616insLys
NM_001195803.1:c.1813_1815dup NP_001182732.1:p.Lys605_Pro606insLys
XM_011528010.1:c.2312-1470_2312-1468dup XP_011526312.1:n.2312-1470_2312-1468dup
XM_011528011.1:c.1966_1968dup XP_011526313.1:p.Lys656_Pro657insLys
XR_244074.2:n.2357_2359dup
XM_011528010.2:c.2312-1470_2312-1468dup XP_011526312.1:n.2312-1470_2312-1468dup
XR_001753685.2:n.2681_2683dup
XR_001753686.2:n.2324_2326dup
NM_000527.5:c.2347_2349dup MANE Select NP_000518.1:p.Lys783_Pro784insLys
NM_001195798.2:c.2347_2349dup NP_001182727.1:p.Lys783_Pro784insLys
NM_001195799.2:c.2224_2226dup NP_001182728.1:p.Lys742_Pro743insLys
NM_001195800.2:c.1843_1845dup NP_001182729.1:p.Lys615_Pro616insLys
NM_001195803.2:c.1813_1815dup NP_001182732.1:p.Lys605_Pro606insLys