Canonical Allele Identifier: CA2499225334
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1076971
ClinVar RCV Id: RCV001391030
dbSNP Id: rs2147287052

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129572_11129576del , CM000681.2:g.11129572_11129576del GRCh38
NC_000019.9:g.11240248_11240252del , CM000681.1:g.11240248_11240252del GRCh37
NC_000019.8:g.11101248_11101252del NCBI36
NG_009060.1:g.45192_45196del , LRG_274:g.45192_45196del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2707_2711del ENSP00000252444.6:p.Asn903GlnfsTer6
ENST00000559340.2:c.*518_*522del ENSP00000453696.2:n.*518_*522del
ENST00000560467.2:c.2329_2333del ENSP00000453513.2:p.Asn777GlnfsTer6
ENST00000558518.6:c.2449_2453del MANE Select ENSP00000454071.1:p.Asn817GlnfsTer6
ENST00000252444.9:c.2703_2707del
ENST00000455727.6:c.1945_1949del ENSP00000397829.2:p.Asn649GlnfsTer6
ENST00000535915.5:c.2326_2330del ENSP00000440520.1:p.Asn776GlnfsTer6
ENST00000545707.5:c.1915_1919del ENSP00000437639.1:p.Asn639GlnfsTer6
ENST00000557933.5:c.2511_2515del ENSP00000453557.1:p.Arg837SerfsTer?
ENST00000558013.5:c.2449_2453del ENSP00000453346.1:p.Asn817GlnfsTer6
ENST00000558518.5:c.2449_2453del ENSP00000454071.1:p.Asn817GlnfsTer6
ENST00000560628.1:n.108+1918_108+1922del
NM_000527.4:c.2449_2453del , LRG_274t1:c.2449_2453del NP_000518.1:p.Asn817GlnfsTer6
NM_001195798.1:c.2449_2453del NP_001182727.1:p.Asn817GlnfsTer6
NM_001195799.1:c.2326_2330del NP_001182728.1:p.Asn776GlnfsTer6
NM_001195800.1:c.1945_1949del NP_001182729.1:p.Asn649GlnfsTer6
NM_001195803.1:c.1915_1919del NP_001182732.1:p.Asn639GlnfsTer6
XM_011528010.1:c.2371_2375del XP_011526312.1:p.Asn791GlnfsTer6
XM_011528011.1:c.2068_2072del XP_011526313.1:p.Asn690GlnfsTer6
XM_011528010.2:c.2371_2375del XP_011526312.1:p.Asn791GlnfsTer6
XR_001753685.2:n.2783_2787del
XR_001753686.2:n.2426_2430del
NM_000527.5:c.2449_2453del MANE Select NP_000518.1:p.Asn817GlnfsTer6
NM_001195798.2:c.2449_2453del NP_001182727.1:p.Asn817GlnfsTer6
NM_001195799.2:c.2326_2330del NP_001182728.1:p.Asn776GlnfsTer6
NM_001195800.2:c.1945_1949del NP_001182729.1:p.Asn649GlnfsTer6
NM_001195803.2:c.1915_1919del NP_001182732.1:p.Asn639GlnfsTer6