Canonical Allele Identifier: CA2582475707
Gene: LDLR HGNC NCBI

Linked Data

gnomAD v4: 19-11120578-CCT-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120585_11120586del , CM000681.2:g.11120585_11120586del GRCh38
NC_000019.9:g.11231261_11231262del , CM000681.1:g.11231261_11231262del GRCh37
NC_000019.8:g.11092261_11092262del NCBI36
NG_009060.1:g.36205_36206del , LRG_274:g.36205_36206del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2398+63_2398+64del ENSP00000252444.6:n.2398+63_2398+64del
ENST00000559340.2:c.*209+63_*209+64del ENSP00000453696.2:n.*209+63_*209+64del
ENST00000560467.2:c.2020+63_2020+64del ENSP00000453513.2:n.2020+63_2020+64del
ENST00000558518.6:c.2140+63_2140+64del MANE Select ENSP00000454071.1:n.2140+63_2140+64del
ENST00000252444.9:c.2394+63_2394+64del
ENST00000455727.6:c.1636+63_1636+64del ENSP00000397829.2:n.1636+63_1636+64del
ENST00000535915.5:c.2017+63_2017+64del ENSP00000440520.1:n.2017+63_2017+64del
ENST00000545707.5:c.1606+352_1606+353del ENSP00000437639.1:n.1606+352_1606+353del
ENST00000557933.5:c.2140+63_2140+64del ENSP00000453557.1:n.2140+63_2140+64del
ENST00000558013.5:c.2140+63_2140+64del ENSP00000453346.1:n.2140+63_2140+64del
ENST00000558518.5:c.2140+63_2140+64del ENSP00000454071.1:n.2140+63_2140+64del
NM_000527.4:c.2140+63_2140+64del , LRG_274t1:c.2140+63_2140+64del NP_000518.1:n.2140+63_2140+64del
NM_001195798.1:c.2140+63_2140+64del NP_001182727.1:n.2140+63_2140+64del
NM_001195799.1:c.2017+63_2017+64del NP_001182728.1:n.2017+63_2017+64del
NM_001195800.1:c.1636+63_1636+64del NP_001182729.1:n.1636+63_1636+64del
NM_001195803.1:c.1606+352_1606+353del NP_001182732.1:n.1606+352_1606+353del
XM_011528010.1:c.2140+63_2140+64del XP_011526312.1:n.2140+63_2140+64del
XM_011528011.1:c.1759+63_1759+64del XP_011526313.1:n.1759+63_1759+64del
XR_244074.2:n.2150+63_2150+64del
XM_011528010.2:c.2140+63_2140+64del XP_011526312.1:n.2140+63_2140+64del
XR_001753685.2:n.2320_2321del
XR_001753686.2:n.2117+63_2117+64del
NM_000527.5:c.2140+63_2140+64del MANE Select NP_000518.1:n.2140+63_2140+64del
NM_001195798.2:c.2140+63_2140+64del NP_001182727.1:n.2140+63_2140+64del
NM_001195799.2:c.2017+63_2017+64del NP_001182728.1:n.2017+63_2017+64del
NM_001195800.2:c.1636+63_1636+64del NP_001182729.1:n.1636+63_1636+64del
NM_001195803.2:c.1606+352_1606+353del NP_001182732.1:n.1606+352_1606+353del
Search 100 bp 5'
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