Canonical Allele Identifier: CA2322779529
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1789787
ClinVar RCV Id: RCV002457660
dbSNP Id: rs2077661092

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11128033_11128050del , CM000681.2:g.11128033_11128050del GRCh38
NC_000019.9:g.11238709_11238726del , CM000681.1:g.11238709_11238726del GRCh37
NC_000019.8:g.11099709_11099726del NCBI36
NG_009060.1:g.43653_43670del , LRG_274:g.43653_43670del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2595_2612del ENSP00000252444.6:p.Asn866_Ser871del
ENST00000559340.2:c.*406_*423del ENSP00000453696.2:n.*406_*423del
ENST00000560467.2:c.2217_2234del ENSP00000453513.2:p.Asn740_Ser745del
ENST00000558518.6:c.2337_2354del MANE Select ENSP00000454071.1:p.Asn780_Ser785del
ENST00000252444.9:c.2591_2608del
ENST00000455727.6:c.1833_1850del ENSP00000397829.2:p.Asn612_Ser617del
ENST00000535915.5:c.2214_2231del ENSP00000440520.1:p.Asn739_Ser744del
ENST00000545707.5:c.1803_1820del ENSP00000437639.1:p.Asn602_Ser607del
ENST00000557933.5:c.2337_2354del ENSP00000453557.1:p.Asn780_Ser785del
ENST00000558013.5:c.2337_2354del ENSP00000453346.1:p.Asn780_Ser785del
ENST00000558518.5:c.2337_2354del ENSP00000454071.1:p.Asn780_Ser785del
ENST00000560628.1:n.108+379_108+396del
NM_000527.4:c.2337_2354del , LRG_274t1:c.2337_2354del NP_000518.1:p.Asn780_Ser785del
NM_001195798.1:c.2337_2354del NP_001182727.1:p.Asn780_Ser785del
NM_001195799.1:c.2214_2231del NP_001182728.1:p.Asn739_Ser744del
NM_001195800.1:c.1833_1850del NP_001182729.1:p.Asn612_Ser617del
NM_001195803.1:c.1803_1820del NP_001182732.1:p.Asn602_Ser607del
XM_011528010.1:c.2312-1480_2312-1463del XP_011526312.1:n.2312-1480_2312-1463del
XM_011528011.1:c.1956_1973del XP_011526313.1:p.Asn653_Ser658del
XR_244074.2:n.2347_2364del
XM_011528010.2:c.2312-1480_2312-1463del XP_011526312.1:n.2312-1480_2312-1463del
XR_001753685.2:n.2671_2688del
XR_001753686.2:n.2314_2331del
NM_000527.5:c.2337_2354del MANE Select NP_000518.1:p.Asn780_Ser785del
NM_001195798.2:c.2337_2354del NP_001182727.1:p.Asn780_Ser785del
NM_001195799.2:c.2214_2231del NP_001182728.1:p.Asn739_Ser744del
NM_001195800.2:c.1833_1850del NP_001182729.1:p.Asn612_Ser617del
NM_001195803.2:c.1803_1820del NP_001182732.1:p.Asn602_Ser607del