Canonical Allele Identifier: CA2580613053
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2568142
ClinVar RCV Id: RCV003283510

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129596_11129598del , CM000681.2:g.11129596_11129598del GRCh38
NC_000019.9:g.11240272_11240274del , CM000681.1:g.11240272_11240274del GRCh37
NC_000019.8:g.11101272_11101274del NCBI36
NG_009060.1:g.45216_45218del , LRG_274:g.45216_45218del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2731_2733del ENSP00000252444.6:p.Asn911del
ENST00000559340.2:c.*542_*544del ENSP00000453696.2:n.*542_*544del
ENST00000560467.2:c.2353_2355del ENSP00000453513.2:p.Asn785del
ENST00000558518.6:c.2473_2475del MANE Select ENSP00000454071.1:p.Asn825del
ENST00000252444.9:c.2727_2729del
ENST00000455727.6:c.1969_1971del ENSP00000397829.2:p.Asn657del
ENST00000535915.5:c.2350_2352del ENSP00000440520.1:p.Asn784del
ENST00000545707.5:c.1939_1941del ENSP00000437639.1:p.Asn647del
ENST00000557933.5:c.2535_2537del ENSP00000453557.1:p.Thr846del
ENST00000558013.5:c.2473_2475del ENSP00000453346.1:p.Asn825del
ENST00000558518.5:c.2473_2475del ENSP00000454071.1:p.Asn825del
ENST00000560628.1:n.108+1942_108+1944del
NM_000527.4:c.2473_2475del , LRG_274t1:c.2473_2475del NP_000518.1:p.Asn825del
NM_001195798.1:c.2473_2475del NP_001182727.1:p.Asn825del
NM_001195799.1:c.2350_2352del NP_001182728.1:p.Asn784del
NM_001195800.1:c.1969_1971del NP_001182729.1:p.Asn657del
NM_001195803.1:c.1939_1941del NP_001182732.1:p.Asn647del
XM_011528010.1:c.2395_2397del XP_011526312.1:p.Asn799del
XM_011528011.1:c.2092_2094del XP_011526313.1:p.Asn698del
XM_011528010.2:c.2395_2397del XP_011526312.1:p.Asn799del
XR_001753685.2:n.2807_2809del
XR_001753686.2:n.2450_2452del
NM_000527.5:c.2473_2475del MANE Select NP_000518.1:p.Asn825del
NM_001195798.2:c.2473_2475del NP_001182727.1:p.Asn825del
NM_001195799.2:c.2350_2352del NP_001182728.1:p.Asn784del
NM_001195800.2:c.1969_1971del NP_001182729.1:p.Asn657del
NM_001195803.2:c.1939_1941del NP_001182732.1:p.Asn647del