Canonical Allele Identifier: CA2322765623
Gene: LDLR HGNC NCBI

Linked Data

dbSNP Id: rs2077219744

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11102021del , CM000681.2:g.11102021del GRCh38
NC_000019.9:g.11212697del , CM000681.1:g.11212697del GRCh37
NC_000019.8:g.11073697del NCBI36
NG_009060.1:g.17641del , LRG_274:g.17641del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.449-643del ENSP00000252444.6:n.449-643del
ENST00000559340.2:c.191-643del ENSP00000453696.2:n.191-643del
ENST00000560467.2:c.191-643del ENSP00000453513.2:n.191-643del
ENST00000558518.6:c.191-643del MANE Select ENSP00000454071.1:n.191-643del
ENST00000252444.9:c.445-643del
ENST00000455727.6:c.191-643del ENSP00000397829.2:n.191-643del
ENST00000535915.5:c.190+1676del ENSP00000440520.1:n.190+1676del
ENST00000545707.5:c.191-643del ENSP00000437639.1:n.191-643del
ENST00000557933.5:c.191-643del ENSP00000453557.1:n.191-643del
ENST00000557958.1:n.277-643del
ENST00000558013.5:c.191-643del ENSP00000453346.1:n.191-643del
ENST00000558518.5:c.191-643del ENSP00000454071.1:n.191-643del
NM_000527.4:c.191-643del , LRG_274t1:c.191-643del NP_000518.1:n.191-643del
NM_001195798.1:c.191-643del NP_001182727.1:n.191-643del
NM_001195799.1:c.190+1676del NP_001182728.1:n.190+1676del
NM_001195800.1:c.191-643del NP_001182729.1:n.191-643del
NM_001195803.1:c.191-643del NP_001182732.1:n.191-643del
XM_011528010.1:c.191-643del XP_011526312.1:n.191-643del
XM_011528011.1:c.191-643del XP_011526313.1:n.191-643del
XR_244074.2:n.341-643del
XM_011528010.2:c.191-643del XP_011526312.1:n.191-643del
XR_001753685.2:n.308-643del
XR_001753686.2:n.308-643del
NM_000527.5:c.191-643del MANE Select NP_000518.1:n.191-643del
NM_001195798.2:c.191-643del NP_001182727.1:n.191-643del
NM_001195799.2:c.190+1676del NP_001182728.1:n.190+1676del
NM_001195800.2:c.191-643del NP_001182729.1:n.191-643del
NM_001195803.2:c.191-643del NP_001182732.1:n.191-643del