Canonical Allele Identifier: CA1139666244
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 977981
ClinVar RCV Id: RCV001255933
dbSNP Id: rs879255141

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120490_11120496del , CM000681.2:g.11120490_11120496del GRCh38
NC_000019.9:g.11231166_11231172del , CM000681.1:g.11231166_11231172del GRCh37
NC_000019.8:g.11092166_11092172del NCBI36
NG_009060.1:g.36110_36116del , LRG_274:g.36110_36116del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2366_2372del ENSP00000252444.6:p.Leu789ProfsTer4
ENST00000559340.2:c.*177_*183del ENSP00000453696.2:n.*177_*183del
ENST00000560467.2:c.1988_1994del ENSP00000453513.2:p.Leu663ProfsTer4
ENST00000558518.6:c.2108_2114del MANE Select ENSP00000454071.1:p.Leu703ProfsTer4
ENST00000252444.9:c.2362_2368del
ENST00000455727.6:c.1604_1610del ENSP00000397829.2:p.Leu535ProfsTer4
ENST00000535915.5:c.1985_1991del ENSP00000440520.1:p.Leu662ProfsTer4
ENST00000545707.5:c.1606+257_1606+263del ENSP00000437639.1:n.1606+257_1606+263del
ENST00000557933.5:c.2108_2114del ENSP00000453557.1:p.Leu703ProfsTer4
ENST00000558013.5:c.2108_2114del ENSP00000453346.1:p.Leu703ProfsTer4
ENST00000558518.5:c.2108_2114del ENSP00000454071.1:p.Leu703ProfsTer4
NM_000527.4:c.2108_2114del , LRG_274t1:c.2108_2114del NP_000518.1:p.Leu703ProfsTer4
NM_001195798.1:c.2108_2114del NP_001182727.1:p.Leu703ProfsTer4
NM_001195799.1:c.1985_1991del NP_001182728.1:p.Leu662ProfsTer4
NM_001195800.1:c.1604_1610del NP_001182729.1:p.Leu535ProfsTer4
NM_001195803.1:c.1606+257_1606+263del NP_001182732.1:n.1606+257_1606+263del
XM_011528010.1:c.2108_2114del XP_011526312.1:p.Leu703ProfsTer4
XM_011528011.1:c.1727_1733del XP_011526313.1:p.Leu576ProfsTer4
XR_244074.2:n.2118_2124del
XM_011528010.2:c.2108_2114del XP_011526312.1:p.Leu703ProfsTer4
XR_001753685.2:n.2225_2231del
XR_001753686.2:n.2085_2091del
NM_000527.5:c.2108_2114del MANE Select NP_000518.1:p.Leu703ProfsTer4
NM_001195798.2:c.2108_2114del NP_001182727.1:p.Leu703ProfsTer4
NM_001195799.2:c.1985_1991del NP_001182728.1:p.Leu662ProfsTer4
NM_001195800.2:c.1604_1610del NP_001182729.1:p.Leu535ProfsTer4
NM_001195803.2:c.1606+257_1606+263del NP_001182732.1:n.1606+257_1606+263del