Canonical Allele Identifier: CA2695228150
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11116973_11116975dup , CM000681.2:g.11116973_11116975dup GRCh38
NC_000019.9:g.11227649_11227651dup , CM000681.1:g.11227649_11227651dup GRCh37
NC_000019.8:g.11088649_11088651dup NCBI36
NG_009060.1:g.32593_32595dup , LRG_274:g.32593_32595dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2078_2080dup ENSP00000252444.6:p.His693_Pro694insHis
ENST00000559340.2:c.1705+761_1705+763dup ENSP00000453696.2:n.1705+761_1705+763dup
ENST00000560467.2:c.1700_1702dup ENSP00000453513.2:p.His567_Pro568insHis
ENST00000558518.6:c.1820_1822dup MANE Select ENSP00000454071.1:p.His607_Pro608insHis
ENST00000252444.9:c.2074_2076dup
ENST00000455727.6:c.1316_1318dup ENSP00000397829.2:p.His439_Pro440insHis
ENST00000535915.5:c.1697_1699dup ENSP00000440520.1:p.His566_Pro567insHis
ENST00000545707.5:c.1439_1441dup ENSP00000437639.1:p.His480_Pro481insHis
ENST00000557933.5:c.1820_1822dup ENSP00000453557.1:p.His607_Pro608insHis
ENST00000558013.5:c.1820_1822dup ENSP00000453346.1:p.His607_Pro608insHis
ENST00000558518.5:c.1820_1822dup ENSP00000454071.1:p.His607_Pro608insHis
ENST00000559340.1:c.426+761_426+763dup
NM_000527.4:c.1820_1822dup , LRG_274t1:c.1820_1822dup NP_000518.1:p.His607_Pro608insHis
NM_001195798.1:c.1820_1822dup NP_001182727.1:p.His607_Pro608insHis
NM_001195799.1:c.1697_1699dup NP_001182728.1:p.His566_Pro567insHis
NM_001195800.1:c.1316_1318dup NP_001182729.1:p.His439_Pro440insHis
NM_001195803.1:c.1439_1441dup NP_001182732.1:p.His480_Pro481insHis
XM_011528010.1:c.1820_1822dup XP_011526312.1:p.His607_Pro608insHis
XM_011528011.1:c.1439_1441dup XP_011526313.1:p.His480_Pro481insHis
XR_244074.2:n.1855+761_1855+763dup
XM_011528010.2:c.1820_1822dup XP_011526312.1:p.His607_Pro608insHis
XR_001753685.2:n.1937_1939dup
XR_001753686.2:n.1822+761_1822+763dup
NM_000527.5:c.1820_1822dup MANE Select NP_000518.1:p.His607_Pro608insHis
NM_001195798.2:c.1820_1822dup NP_001182727.1:p.His607_Pro608insHis
NM_001195799.2:c.1697_1699dup NP_001182728.1:p.His566_Pro567insHis
NM_001195800.2:c.1316_1318dup NP_001182729.1:p.His439_Pro440insHis
NM_001195803.2:c.1439_1441dup NP_001182732.1:p.His480_Pro481insHis