Canonical Allele Identifier: CA993530331
Gene: LDLR HGNC NCBI

Linked Data

gnomAD v3: 19-11102226-CAAAAA-C
gnomAD v4: 19-11102226-CAAAAA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11102238_11102242del , CM000681.2:g.11102238_11102242del GRCh38
NC_000019.9:g.11212914_11212918del , CM000681.1:g.11212914_11212918del GRCh37
NC_000019.8:g.11073914_11073918del NCBI36
NG_009060.1:g.17858_17862del , LRG_274:g.17858_17862del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.449-426_449-422del ENSP00000252444.6:n.449-426_449-422del
ENST00000559340.2:c.191-426_191-422del ENSP00000453696.2:n.191-426_191-422del
ENST00000560467.2:c.191-426_191-422del ENSP00000453513.2:n.191-426_191-422del
ENST00000558518.6:c.191-426_191-422del MANE Select ENSP00000454071.1:n.191-426_191-422del
ENST00000252444.9:c.445-426_445-422del
ENST00000455727.6:c.191-426_191-422del ENSP00000397829.2:n.191-426_191-422del
ENST00000535915.5:c.190+1893_190+1897del ENSP00000440520.1:n.190+1893_190+1897del
ENST00000545707.5:c.191-426_191-422del ENSP00000437639.1:n.191-426_191-422del
ENST00000557933.5:c.191-426_191-422del ENSP00000453557.1:n.191-426_191-422del
ENST00000557958.1:n.277-426_277-422del
ENST00000558013.5:c.191-426_191-422del ENSP00000453346.1:n.191-426_191-422del
ENST00000558518.5:c.191-426_191-422del ENSP00000454071.1:n.191-426_191-422del
NM_000527.4:c.191-426_191-422del , LRG_274t1:c.191-426_191-422del NP_000518.1:n.191-426_191-422del
NM_001195798.1:c.191-426_191-422del NP_001182727.1:n.191-426_191-422del
NM_001195799.1:c.190+1893_190+1897del NP_001182728.1:n.190+1893_190+1897del
NM_001195800.1:c.191-426_191-422del NP_001182729.1:n.191-426_191-422del
NM_001195803.1:c.191-426_191-422del NP_001182732.1:n.191-426_191-422del
XM_011528010.1:c.191-426_191-422del XP_011526312.1:n.191-426_191-422del
XM_011528011.1:c.191-426_191-422del XP_011526313.1:n.191-426_191-422del
XR_244074.2:n.341-426_341-422del
XM_011528010.2:c.191-426_191-422del XP_011526312.1:n.191-426_191-422del
XR_001753685.2:n.308-426_308-422del
XR_001753686.2:n.308-426_308-422del
NM_000527.5:c.191-426_191-422del MANE Select NP_000518.1:n.191-426_191-422del
NM_001195798.2:c.191-426_191-422del NP_001182727.1:n.191-426_191-422del
NM_001195799.2:c.190+1893_190+1897del NP_001182728.1:n.190+1893_190+1897del
NM_001195800.2:c.191-426_191-422del NP_001182729.1:n.191-426_191-422del
NM_001195803.2:c.191-426_191-422del NP_001182732.1:n.191-426_191-422del
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