Canonical Allele Identifier: CA2582472315
Gene: LDLR HGNC NCBI

Linked Data

gnomAD v4: 19-11102913-C-CCCCCAAGAGA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11102913_11102914insCCCCAAGAGA , CM000681.2:g.11102913_11102914insCCCCAAGAGA GRCh38
NC_000019.9:g.11213589_11213590insCCCCAAGAGA , CM000681.1:g.11213589_11213590insCCCCAAGAGA GRCh37
NC_000019.8:g.11074589_11074590insCCCCAAGAGA NCBI36
NG_009060.1:g.18533_18534insCCCCAAGAGA , LRG_274:g.18533_18534insCCCCAAGAGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.571+127_571+128insCCCCAAGAGA ENSP00000252444.6:n.571+127_571+128insCCCCAAGAGA
ENST00000559340.2:c.313+127_313+128insCCCCAAGAGA ENSP00000453696.2:n.313+127_313+128insCCCCAAGAGA
ENST00000560467.2:c.313+127_313+128insCCCCAAGAGA ENSP00000453513.2:n.313+127_313+128insCCCCAAGAGA
ENST00000558518.6:c.313+127_313+128insCCCCAAGAGA MANE Select ENSP00000454071.1:n.313+127_313+128insCCCCAAGAGA
ENST00000252444.9:c.567+127_567+128insCCCCAAGAGA
ENST00000455727.6:c.313+127_313+128insCCCCAAGAGA ENSP00000397829.2:n.313+127_313+128insCCCCAAGAGA
ENST00000535915.5:c.191-2307_191-2306insCCCCAAGAGA ENSP00000440520.1:n.191-2307_191-2306insCCCCAAGAGA
ENST00000545707.5:c.313+127_313+128insCCCCAAGAGA ENSP00000437639.1:n.313+127_313+128insCCCCAAGAGA
ENST00000557933.5:c.313+127_313+128insCCCCAAGAGA ENSP00000453557.1:n.313+127_313+128insCCCCAAGAGA
ENST00000557958.1:n.526_527insCCCCAAGAGA
ENST00000558013.5:c.313+127_313+128insCCCCAAGAGA ENSP00000453346.1:n.313+127_313+128insCCCCAAGAGA
ENST00000558518.5:c.313+127_313+128insCCCCAAGAGA ENSP00000454071.1:n.313+127_313+128insCCCCAAGAGA
NM_000527.4:c.313+127_313+128insCCCCAAGAGA , LRG_274t1:c.313+127_313+128insCCCCAAGAGA NP_000518.1:n.313+127_313+128insCCCCAAGAGA
NM_001195798.1:c.313+127_313+128insCCCCAAGAGA NP_001182727.1:n.313+127_313+128insCCCCAAGAGA
NM_001195799.1:c.191-2307_191-2306insCCCCAAGAGA NP_001182728.1:n.191-2307_191-2306insCCCCAAGAGA
NM_001195800.1:c.313+127_313+128insCCCCAAGAGA NP_001182729.1:n.313+127_313+128insCCCCAAGAGA
NM_001195803.1:c.313+127_313+128insCCCCAAGAGA NP_001182732.1:n.313+127_313+128insCCCCAAGAGA
XM_011528010.1:c.313+127_313+128insCCCCAAGAGA XP_011526312.1:n.313+127_313+128insCCCCAAGAGA
XM_011528011.1:c.313+127_313+128insCCCCAAGAGA XP_011526313.1:n.313+127_313+128insCCCCAAGAGA
XR_244074.2:n.463+127_463+128insCCCCAAGAGA
XM_011528010.2:c.313+127_313+128insCCCCAAGAGA XP_011526312.1:n.313+127_313+128insCCCCAAGAGA
XR_001753685.2:n.430+127_430+128insCCCCAAGAGA
XR_001753686.2:n.430+127_430+128insCCCCAAGAGA
NM_000527.5:c.313+127_313+128insCCCCAAGAGA MANE Select NP_000518.1:n.313+127_313+128insCCCCAAGAGA
NM_001195798.2:c.313+127_313+128insCCCCAAGAGA NP_001182727.1:n.313+127_313+128insCCCCAAGAGA
NM_001195799.2:c.191-2307_191-2306insCCCCAAGAGA NP_001182728.1:n.191-2307_191-2306insCCCCAAGAGA
NM_001195800.2:c.313+127_313+128insCCCCAAGAGA NP_001182729.1:n.313+127_313+128insCCCCAAGAGA
NM_001195803.2:c.313+127_313+128insCCCCAAGAGA NP_001182732.1:n.313+127_313+128insCCCCAAGAGA
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