Canonical Allele Identifier: CA993530320
Gene: LDLR HGNC NCBI

Linked Data

gnomAD v3: 19-11102225-T-TAA
gnomAD v4: 19-11102225-T-TAA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11102225_11102226insAA , CM000681.2:g.11102225_11102226insAA GRCh38
NC_000019.9:g.11212901_11212902insAA , CM000681.1:g.11212901_11212902insAA GRCh37
NC_000019.8:g.11073901_11073902insAA NCBI36
NG_009060.1:g.17845_17846insAA , LRG_274:g.17845_17846insAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.449-439_449-438insAA ENSP00000252444.6:n.449-439_449-438insAA
ENST00000559340.2:c.191-439_191-438insAA ENSP00000453696.2:n.191-439_191-438insAA
ENST00000560467.2:c.191-439_191-438insAA ENSP00000453513.2:n.191-439_191-438insAA
ENST00000558518.6:c.191-439_191-438insAA MANE Select ENSP00000454071.1:n.191-439_191-438insAA
ENST00000252444.9:c.445-439_445-438insAA
ENST00000455727.6:c.191-439_191-438insAA ENSP00000397829.2:n.191-439_191-438insAA
ENST00000535915.5:c.190+1880_190+1881insAA ENSP00000440520.1:n.190+1880_190+1881insAA
ENST00000545707.5:c.191-439_191-438insAA ENSP00000437639.1:n.191-439_191-438insAA
ENST00000557933.5:c.191-439_191-438insAA ENSP00000453557.1:n.191-439_191-438insAA
ENST00000557958.1:n.277-439_277-438insAA
ENST00000558013.5:c.191-439_191-438insAA ENSP00000453346.1:n.191-439_191-438insAA
ENST00000558518.5:c.191-439_191-438insAA ENSP00000454071.1:n.191-439_191-438insAA
NM_000527.4:c.191-439_191-438insAA , LRG_274t1:c.191-439_191-438insAA NP_000518.1:n.191-439_191-438insAA
NM_001195798.1:c.191-439_191-438insAA NP_001182727.1:n.191-439_191-438insAA
NM_001195799.1:c.190+1880_190+1881insAA NP_001182728.1:n.190+1880_190+1881insAA
NM_001195800.1:c.191-439_191-438insAA NP_001182729.1:n.191-439_191-438insAA
NM_001195803.1:c.191-439_191-438insAA NP_001182732.1:n.191-439_191-438insAA
XM_011528010.1:c.191-439_191-438insAA XP_011526312.1:n.191-439_191-438insAA
XM_011528011.1:c.191-439_191-438insAA XP_011526313.1:n.191-439_191-438insAA
XR_244074.2:n.341-439_341-438insAA
XM_011528010.2:c.191-439_191-438insAA XP_011526312.1:n.191-439_191-438insAA
XR_001753685.2:n.308-439_308-438insAA
XR_001753686.2:n.308-439_308-438insAA
NM_000527.5:c.191-439_191-438insAA MANE Select NP_000518.1:n.191-439_191-438insAA
NM_001195798.2:c.191-439_191-438insAA NP_001182727.1:n.191-439_191-438insAA
NM_001195799.2:c.190+1880_190+1881insAA NP_001182728.1:n.190+1880_190+1881insAA
NM_001195800.2:c.191-439_191-438insAA NP_001182729.1:n.191-439_191-438insAA
NM_001195803.2:c.191-439_191-438insAA NP_001182732.1:n.191-439_191-438insAA
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