Canonical Allele Identifier: CA2582475436
Gene: LDLR HGNC NCBI

Linked Data

gnomAD v4: 19-11123117-CTA-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11123119_11123120del , CM000681.2:g.11123119_11123120del GRCh38
NC_000019.9:g.11233795_11233796del , CM000681.1:g.11233795_11233796del GRCh37
NC_000019.8:g.11094795_11094796del NCBI36
NG_009060.1:g.38739_38740del , LRG_274:g.38739_38740del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2399-55_2399-54del ENSP00000252444.6:n.2399-55_2399-54del
ENST00000559340.2:c.*210-55_*210-54del ENSP00000453696.2:n.*210-55_*210-54del
ENST00000560467.2:c.2021-55_2021-54del ENSP00000453513.2:n.2021-55_2021-54del
ENST00000558518.6:c.2141-55_2141-54del MANE Select ENSP00000454071.1:n.2141-55_2141-54del
ENST00000252444.9:c.2395-55_2395-54del
ENST00000455727.6:c.1637-55_1637-54del ENSP00000397829.2:n.1637-55_1637-54del
ENST00000535915.5:c.2018-55_2018-54del ENSP00000440520.1:n.2018-55_2018-54del
ENST00000545707.5:c.1607-55_1607-54del ENSP00000437639.1:n.1607-55_1607-54del
ENST00000557933.5:c.2141-55_2141-54del ENSP00000453557.1:n.2141-55_2141-54del
ENST00000558013.5:c.2141-55_2141-54del ENSP00000453346.1:n.2141-55_2141-54del
ENST00000558518.5:c.2141-55_2141-54del ENSP00000454071.1:n.2141-55_2141-54del
NM_000527.4:c.2141-55_2141-54del , LRG_274t1:c.2141-55_2141-54del NP_000518.1:n.2141-55_2141-54del
NM_001195798.1:c.2141-55_2141-54del NP_001182727.1:n.2141-55_2141-54del
NM_001195799.1:c.2018-55_2018-54del NP_001182728.1:n.2018-55_2018-54del
NM_001195800.1:c.1637-55_1637-54del NP_001182729.1:n.1637-55_1637-54del
NM_001195803.1:c.1607-55_1607-54del NP_001182732.1:n.1607-55_1607-54del
XM_011528010.1:c.2141-55_2141-54del XP_011526312.1:n.2141-55_2141-54del
XM_011528011.1:c.1760-55_1760-54del XP_011526313.1:n.1760-55_1760-54del
XR_244074.2:n.2151-55_2151-54del
XM_011528010.2:c.2141-55_2141-54del XP_011526312.1:n.2141-55_2141-54del
XR_001753685.2:n.2475-55_2475-54del
XR_001753686.2:n.2118-55_2118-54del
NM_000527.5:c.2141-55_2141-54del MANE Select NP_000518.1:n.2141-55_2141-54del
NM_001195798.2:c.2141-55_2141-54del NP_001182727.1:n.2141-55_2141-54del
NM_001195799.2:c.2018-55_2018-54del NP_001182728.1:n.2018-55_2018-54del
NM_001195800.2:c.1637-55_1637-54del NP_001182729.1:n.1637-55_1637-54del
NM_001195803.2:c.1607-55_1607-54del NP_001182732.1:n.1607-55_1607-54del
Search 100 bp 5'
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