Canonical Allele Identifier: CA2573155707
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1677213
dbSNP Id: rs2147210820

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11100349_11100352del , CM000681.2:g.11100349_11100352del GRCh38
NC_000019.9:g.11211025_11211028del , CM000681.1:g.11211025_11211028del GRCh37
NC_000019.8:g.11072025_11072028del NCBI36
NG_009060.1:g.15969_15972del , LRG_274:g.15969_15972del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.448+4_448+7del ENSP00000252444.6:n.448+4_448+7del
ENST00000559340.2:c.190+4_190+7del ENSP00000453696.2:n.190+4_190+7del
ENST00000560467.2:c.190+4_190+7del ENSP00000453513.2:n.190+4_190+7del
ENST00000558518.6:c.190+4_190+7del MANE Select ENSP00000454071.1:n.190+4_190+7del
ENST00000252444.9:c.444+4_444+7del
ENST00000455727.6:c.190+4_190+7del ENSP00000397829.2:n.190+4_190+7del
ENST00000535915.5:c.190+4_190+7del ENSP00000440520.1:n.190+4_190+7del
ENST00000545707.5:c.190+4_190+7del ENSP00000437639.1:n.190+4_190+7del
ENST00000557933.5:c.190+4_190+7del ENSP00000453557.1:n.190+4_190+7del
ENST00000557958.1:n.276+4_276+7del
ENST00000558013.5:c.190+4_190+7del ENSP00000453346.1:n.190+4_190+7del
ENST00000558518.5:c.190+4_190+7del ENSP00000454071.1:n.190+4_190+7del
ENST00000560502.5:n.280_283del
NM_000527.4:c.190+4_190+7del , LRG_274t1:c.190+4_190+7del NP_000518.1:n.190+4_190+7del
NM_001195798.1:c.190+4_190+7del NP_001182727.1:n.190+4_190+7del
NM_001195799.1:c.190+4_190+7del NP_001182728.1:n.190+4_190+7del
NM_001195800.1:c.190+4_190+7del NP_001182729.1:n.190+4_190+7del
NM_001195803.1:c.190+4_190+7del NP_001182732.1:n.190+4_190+7del
XM_011528010.1:c.190+4_190+7del XP_011526312.1:n.190+4_190+7del
XM_011528011.1:c.190+4_190+7del XP_011526313.1:n.190+4_190+7del
XR_244074.2:n.340+4_340+7del
XM_011528010.2:c.190+4_190+7del XP_011526312.1:n.190+4_190+7del
XR_001753685.2:n.307+4_307+7del
XR_001753686.2:n.307+4_307+7del
NM_000527.5:c.190+4_190+7del MANE Select NP_000518.1:n.190+4_190+7del
NM_001195798.2:c.190+4_190+7del NP_001182727.1:n.190+4_190+7del
NM_001195799.2:c.190+4_190+7del NP_001182728.1:n.190+4_190+7del
NM_001195800.2:c.190+4_190+7del NP_001182729.1:n.190+4_190+7del
NM_001195803.2:c.190+4_190+7del NP_001182732.1:n.190+4_190+7del