Canonical Allele Identifier: CA2322781163
Community Standard Title: NM_000527.5(LDLR):c.2548-101_2548-79delinsGGGGGAGGCTGCCAGGCCCAGGA
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11131180_11131202delinsGGGGGAGGCTGCCAGGCCCAGGA , CM000681.2:g.11131180_11131202delinsGGGGGAGGCTGCCAGGCCCAGGA GRCh38
NC_000019.9:g.11241856_11241878delinsGGGGGAGGCTGCCAGGCCCAGGA , CM000681.1:g.11241856_11241878delinsGGGGGAGGCTGCCAGGCCCAGGA GRCh37
NC_000019.8:g.11102856_11102878delinsGGGGGAGGCTGCCAGGCCCAGGA NCBI36
NG_009060.1:g.46800_46822delinsGGGGGAGGCTGCCAGGCCCAGGA , LRG_274:g.46800_46822delinsGGGGGAGGCTGCCAGGCCCAGGA

Transcript Alleles

HGVS Amino-acid Change
NM_000527.5:c.2548-101_2548-79delinsGGGGGAGGCTGCCAGGCCCAGGA MANE Select NP_000518.1:n.2548-101_2548-79delinsGGGGGAGGCTGCCAGGCCCAGGA
ENST00000558518.6:c.2548-101_2548-79delinsGGGGGAGGCTGCCAGGCCCAGGA MANE Select ENSP00000454071.1:n.2548-101_2548-79delinsGGGGGAGGCTGCCAGGCCC...
NM_000527.4:c.2548-101_2548-79delinsGGGGGAGGCTGCCAGGCCCAGGA , LRG_274t1:c.2548-101_2548-79delinsGGGGGAGGCTGCCAGGCCCAGGA NP_000518.1:n.2548-101_2548-79delinsGGGGGAGGCTGCCAGGCCCAGGA
NM_001195798.1:c.2548-107_2548-85delinsGGGGGAGGCTGCCAGGCCCAGGA NP_001182727.1:n.2548-107_2548-85delinsGGGGGAGGCTGCCAGGCCCAGG...
NM_001195798.2:c.2548-107_2548-85delinsGGGGGAGGCTGCCAGGCCCAGGA NP_001182727.1:n.2548-107_2548-85delinsGGGGGAGGCTGCCAGGCCCAGG...
NM_001195799.1:c.2425-101_2425-79delinsGGGGGAGGCTGCCAGGCCCAGGA NP_001182728.1:n.2425-101_2425-79delinsGGGGGAGGCTGCCAGGCCCAGG...
NM_001195799.2:c.2425-101_2425-79delinsGGGGGAGGCTGCCAGGCCCAGGA NP_001182728.1:n.2425-101_2425-79delinsGGGGGAGGCTGCCAGGCCCAGG...
NM_001195800.1:c.2044-101_2044-79delinsGGGGGAGGCTGCCAGGCCCAGGA NP_001182729.1:n.2044-101_2044-79delinsGGGGGAGGCTGCCAGGCCCAGG...
NM_001195800.2:c.2044-101_2044-79delinsGGGGGAGGCTGCCAGGCCCAGGA NP_001182729.1:n.2044-101_2044-79delinsGGGGGAGGCTGCCAGGCCCAGG...
NM_001195803.1:c.2014-101_2014-79delinsGGGGGAGGCTGCCAGGCCCAGGA NP_001182732.1:n.2014-101_2014-79delinsGGGGGAGGCTGCCAGGCCCAGG...
NM_001195803.2:c.2014-101_2014-79delinsGGGGGAGGCTGCCAGGCCCAGGA NP_001182732.1:n.2014-101_2014-79delinsGGGGGAGGCTGCCAGGCCCAGG...
ENST00000252444.10:c.2806-101_2806-79delinsGGGGGAGGCTGCCAGGCCCAGGA ENSP00000252444.6:n.2806-101_2806-79delinsGGGGGAGGCTGCCAGGCCC...
ENST00000252444.9:c.2802-101_2802-79delinsGGGGGAGGCTGCCAGGCCCAGGA
ENST00000455727.6:c.2044-101_2044-79delinsGGGGGAGGCTGCCAGGCCCAGGA ENSP00000397829.2:n.2044-101_2044-79delinsGGGGGAGGCTGCCAGGCCC...
ENST00000535915.5:c.2425-101_2425-79delinsGGGGGAGGCTGCCAGGCCCAGGA ENSP00000440520.1:n.2425-101_2425-79delinsGGGGGAGGCTGCCAGGCCC...
ENST00000545707.5:c.2014-101_2014-79delinsGGGGGAGGCTGCCAGGCCCAGGA ENSP00000437639.1:n.2014-101_2014-79delinsGGGGGAGGCTGCCAGGCCC...
ENST00000557933.5:c.2610-101_2610-79delinsGGGGGAGGCTGCCAGGCCCAGGA ENSP00000453557.1:n.2610-101_2610-79delinsGGGGGAGGCTGCCAGGCCC...
ENST00000558013.5:c.2548-107_2548-85delinsGGGGGAGGCTGCCAGGCCCAGGA ENSP00000453346.1:n.2548-107_2548-85delinsGGGGGAGGCTGCCAGGCCC...
ENST00000558518.5:c.2548-101_2548-79delinsGGGGGAGGCTGCCAGGCCCAGGA ENSP00000454071.1:n.2548-101_2548-79delinsGGGGGAGGCTGCCAGGCCC...
ENST00000559340.2:c.*617-101_*617-79delinsGGGGGAGGCTGCCAGGCCCAGGA ENSP00000453696.2:n.*617-101_*617-79delinsGGGGGAGGCTGCCAGGCCC...
ENST00000560467.2:c.2428-101_2428-79delinsGGGGGAGGCTGCCAGGCCCAGGA ENSP00000453513.2:n.2428-101_2428-79delinsGGGGGAGGCTGCCAGGCCC...
ENST00000560628.1:n.109-1915_109-1893delinsGGGGGAGGCTGCCAGGCCCAGGA
XM_011528010.1:c.2470-101_2470-79delinsGGGGGAGGCTGCCAGGCCCAGGA XP_011526312.1:n.2470-101_2470-79delinsGGGGGAGGCTGCCAGGCCCAGG...
XM_011528010.2:c.2470-101_2470-79delinsGGGGGAGGCTGCCAGGCCCAGGA XP_011526312.1:n.2470-101_2470-79delinsGGGGGAGGCTGCCAGGCCCAGG...
XM_011528011.1:c.2167-101_2167-79delinsGGGGGAGGCTGCCAGGCCCAGGA XP_011526313.1:n.2167-101_2167-79delinsGGGGGAGGCTGCCAGGCCCAGG...
XR_001753685.2:n.2882-101_2882-79delinsGGGGGAGGCTGCCAGGCCCAGGA
XR_001753686.2:n.2525-101_2525-79delinsGGGGGAGGCTGCCAGGCCCAGGA