Canonical Allele Identifier: CA10588898
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 265904
ClinVar RCV Id: RCV000256288
dbSNP Id: rs886039834

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11116983_11116992del , CM000681.2:g.11116983_11116992del GRCh38
NC_000019.9:g.11227659_11227668del , CM000681.1:g.11227659_11227668del GRCh37
NC_000019.8:g.11088659_11088668del NCBI36
NG_009060.1:g.32603_32612del , LRG_274:g.32603_32612del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2088_2097del ENSP00000252444.6:p.Ala698ArgfsTer?
ENST00000559340.2:c.1705+771_1705+780del ENSP00000453696.2:n.1705+771_1705+780del
ENST00000560467.2:c.1710_1719del ENSP00000453513.2:p.Ala572ArgfsTer?
ENST00000558518.6:c.1830_1839del MANE Select ENSP00000454071.1:p.Ala612ArgfsTer?
ENST00000252444.9:c.2084_2093del
ENST00000455727.6:c.1326_1335del ENSP00000397829.2:p.Ala444ArgfsTer?
ENST00000535915.5:c.1707_1716del ENSP00000440520.1:p.Ala571ArgfsTer?
ENST00000545707.5:c.1449_1458del ENSP00000437639.1:p.Ala485ArgfsTer?
ENST00000557933.5:c.1830_1839del ENSP00000453557.1:p.Ala612ArgfsTer?
ENST00000558013.5:c.1830_1839del ENSP00000453346.1:p.Ala612ArgfsTer?
ENST00000558518.5:c.1830_1839del ENSP00000454071.1:p.Ala612ArgfsTer?
ENST00000559340.1:c.426+771_426+780del
NM_000527.4:c.1830_1839del , LRG_274t1:c.1830_1839del NP_000518.1:p.Ala612ArgfsTer?
NM_001195798.1:c.1830_1839del NP_001182727.1:p.Ala612ArgfsTer?
NM_001195799.1:c.1707_1716del NP_001182728.1:p.Ala571ArgfsTer?
NM_001195800.1:c.1326_1335del NP_001182729.1:p.Ala444ArgfsTer?
NM_001195803.1:c.1449_1458del NP_001182732.1:p.Ala485ArgfsTer?
XM_011528010.1:c.1830_1839del XP_011526312.1:p.Ala612ArgfsTer?
XM_011528011.1:c.1449_1458del XP_011526313.1:p.Ala485ArgfsTer?
XR_244074.2:n.1855+771_1855+780del
XM_011528010.2:c.1830_1839del XP_011526312.1:p.Ala612ArgfsTer?
XR_001753685.2:n.1947_1956del
XR_001753686.2:n.1822+771_1822+780del
NM_000527.5:c.1830_1839del MANE Select NP_000518.1:p.Ala612ArgfsTer?
NM_001195798.2:c.1830_1839del NP_001182727.1:p.Ala612ArgfsTer?
NM_001195799.2:c.1707_1716del NP_001182728.1:p.Ala571ArgfsTer?
NM_001195800.2:c.1326_1335del NP_001182729.1:p.Ala444ArgfsTer?
NM_001195803.2:c.1449_1458del NP_001182732.1:p.Ala485ArgfsTer?