Canonical Allele Identifier: CA645372642
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 431549
ClinVar RCV Id: RCV000497043
dbSNP Id: rs1135402784

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11128064_11128065dup , CM000681.2:g.11128064_11128065dup GRCh38
NC_000019.9:g.11238740_11238741dup , CM000681.1:g.11238740_11238741dup GRCh37
NC_000019.8:g.11099740_11099741dup NCBI36
NG_009060.1:g.43684_43685dup , LRG_274:g.43684_43685dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2626_2627dup ENSP00000252444.6:p.Ser877CysfsTer?
ENST00000559340.2:c.*437_*438dup ENSP00000453696.2:n.*437_*438dup
ENST00000560467.2:c.2248_2249dup ENSP00000453513.2:p.Ser751CysfsTer?
ENST00000558518.6:c.2368_2369dup MANE Select ENSP00000454071.1:p.Ser791CysfsTer?
ENST00000252444.9:c.2622_2623dup
ENST00000455727.6:c.1864_1865dup ENSP00000397829.2:p.Ser623CysfsTer?
ENST00000535915.5:c.2245_2246dup ENSP00000440520.1:p.Ser750CysfsTer?
ENST00000545707.5:c.1834_1835dup ENSP00000437639.1:p.Ser613CysfsTer?
ENST00000557933.5:c.2368_2369dup ENSP00000453557.1:p.Ser791CysfsTer?
ENST00000558013.5:c.2368_2369dup ENSP00000453346.1:p.Ser791CysfsTer?
ENST00000558518.5:c.2368_2369dup ENSP00000454071.1:p.Ser791CysfsTer?
ENST00000560628.1:n.108+410_108+411dup
NM_000527.4:c.2368_2369dup , LRG_274t1:c.2368_2369dup NP_000518.1:p.Ser791CysfsTer?
NM_001195798.1:c.2368_2369dup NP_001182727.1:p.Ser791CysfsTer?
NM_001195799.1:c.2245_2246dup NP_001182728.1:p.Ser750CysfsTer?
NM_001195800.1:c.1864_1865dup NP_001182729.1:p.Ser623CysfsTer?
NM_001195803.1:c.1834_1835dup NP_001182732.1:p.Ser613CysfsTer?
XM_011528010.1:c.2312-1449_2312-1448dup XP_011526312.1:n.2312-1449_2312-1448dup
XM_011528011.1:c.1987_1988dup XP_011526313.1:p.Ser664CysfsTer?
XR_244074.2:n.2378_2379dup
XM_011528010.2:c.2312-1449_2312-1448dup XP_011526312.1:n.2312-1449_2312-1448dup
XR_001753685.2:n.2702_2703dup
XR_001753686.2:n.2345_2346dup
NM_000527.5:c.2368_2369dup MANE Select NP_000518.1:p.Ser791CysfsTer?
NM_001195798.2:c.2368_2369dup NP_001182727.1:p.Ser791CysfsTer?
NM_001195799.2:c.2245_2246dup NP_001182728.1:p.Ser750CysfsTer?
NM_001195800.2:c.1864_1865dup NP_001182729.1:p.Ser623CysfsTer?
NM_001195803.2:c.1834_1835dup NP_001182732.1:p.Ser613CysfsTer?