Canonical Allele Identifier: CA657201412
Gene: LDLR HGNC NCBI

Linked Data

COSMIC: COSN20054208
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120075_11120078del , CM000681.2:g.11120075_11120078del GRCh38
NC_000019.9:g.11230751_11230754del , CM000681.1:g.11230751_11230754del GRCh37
NC_000019.8:g.11091751_11091754del NCBI36
NG_009060.1:g.35695_35698del , LRG_274:g.35695_35698del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2104-17_2104-14del ENSP00000252444.6:n.2104-17_2104-14del
ENST00000559340.2:c.1706-17_1706-14del ENSP00000453696.2:n.1706-17_1706-14del
ENST00000560467.2:c.1726-17_1726-14del ENSP00000453513.2:n.1726-17_1726-14del
ENST00000558518.6:c.1846-17_1846-14del MANE Select ENSP00000454071.1:n.1846-17_1846-14del
ENST00000252444.9:c.2100-17_2100-14del
ENST00000455727.6:c.1342-17_1342-14del ENSP00000397829.2:n.1342-17_1342-14del
ENST00000535915.5:c.1723-17_1723-14del ENSP00000440520.1:n.1723-17_1723-14del
ENST00000545707.5:c.1465-17_1465-14del ENSP00000437639.1:n.1465-17_1465-14del
ENST00000557933.5:c.1846-17_1846-14del ENSP00000453557.1:n.1846-17_1846-14del
ENST00000558013.5:c.1846-17_1846-14del ENSP00000453346.1:n.1846-17_1846-14del
ENST00000558518.5:c.1846-17_1846-14del ENSP00000454071.1:n.1846-17_1846-14del
ENST00000559340.1:c.427-17_427-14del
NM_000527.4:c.1846-17_1846-14del , LRG_274t1:c.1846-17_1846-14del NP_000518.1:n.1846-17_1846-14del
NM_001195798.1:c.1846-17_1846-14del NP_001182727.1:n.1846-17_1846-14del
NM_001195799.1:c.1723-17_1723-14del NP_001182728.1:n.1723-17_1723-14del
NM_001195800.1:c.1342-17_1342-14del NP_001182729.1:n.1342-17_1342-14del
NM_001195803.1:c.1465-17_1465-14del NP_001182732.1:n.1465-17_1465-14del
XM_011528010.1:c.1846-17_1846-14del XP_011526312.1:n.1846-17_1846-14del
XM_011528011.1:c.1465-17_1465-14del XP_011526313.1:n.1465-17_1465-14del
XR_244074.2:n.1856-17_1856-14del
XM_011528010.2:c.1846-17_1846-14del XP_011526312.1:n.1846-17_1846-14del
XR_001753685.2:n.1963-17_1963-14del
XR_001753686.2:n.1823-17_1823-14del
NM_000527.5:c.1846-17_1846-14del MANE Select NP_000518.1:n.1846-17_1846-14del
NM_001195798.2:c.1846-17_1846-14del NP_001182727.1:n.1846-17_1846-14del
NM_001195799.2:c.1723-17_1723-14del NP_001182728.1:n.1723-17_1723-14del
NM_001195800.2:c.1342-17_1342-14del NP_001182729.1:n.1342-17_1342-14del
NM_001195803.2:c.1465-17_1465-14del NP_001182732.1:n.1465-17_1465-14del
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