Canonical Allele Identifier: CA2322770629
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11111403_11111405delinsGGC , CM000681.2:g.11111403_11111405delinsGGC GRCh38
NC_000019.9:g.11222079_11222081delinsGGC , CM000681.1:g.11222079_11222081delinsGGC GRCh37
NC_000019.8:g.11083079_11083081delinsGGC NCBI36
NG_009060.1:g.27023_27025delinsGGC , LRG_274:g.27023_27025delinsGGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1319-111_1319-109delinsGGC ENSP00000252444.6:n.1319-111_1319-109delinsGGC
ENST00000559340.2:c.1061-111_1061-109delinsGGC ENSP00000453696.2:n.1061-111_1061-109delinsGGC
ENST00000560467.2:c.941-111_941-109delinsGGC ENSP00000453513.2:n.941-111_941-109delinsGGC
ENST00000558518.6:c.1061-111_1061-109delinsGGC MANE Select ENSP00000454071.1:n.1061-111_1061-109delinsGGC
ENST00000252444.9:c.1315-111_1315-109delinsGGC
ENST00000455727.6:c.557-111_557-109delinsGGC ENSP00000397829.2:n.557-111_557-109delinsGGC
ENST00000535915.5:c.938-111_938-109delinsGGC ENSP00000440520.1:n.938-111_938-109delinsGGC
ENST00000545707.5:c.680-111_680-109delinsGGC ENSP00000437639.1:n.680-111_680-109delinsGGC
ENST00000557933.5:c.1061-111_1061-109delinsGGC ENSP00000453557.1:n.1061-111_1061-109delinsGGC
ENST00000558013.5:c.1061-111_1061-109delinsGGC ENSP00000453346.1:n.1061-111_1061-109delinsGGC
ENST00000558518.5:c.1061-111_1061-109delinsGGC ENSP00000454071.1:n.1061-111_1061-109delinsGGC
ENST00000560173.1:n.60-111_60-109delinsGGC
ENST00000560467.1:c.541-111_541-109delinsGGC
NM_000527.4:c.1061-111_1061-109delinsGGC , LRG_274t1:c.1061-111_1061-109delinsGGC NP_000518.1:n.1061-111_1061-109delinsGGC
NM_001195798.1:c.1061-111_1061-109delinsGGC NP_001182727.1:n.1061-111_1061-109delinsGGC
NM_001195799.1:c.938-111_938-109delinsGGC NP_001182728.1:n.938-111_938-109delinsGGC
NM_001195800.1:c.557-111_557-109delinsGGC NP_001182729.1:n.557-111_557-109delinsGGC
NM_001195803.1:c.680-111_680-109delinsGGC NP_001182732.1:n.680-111_680-109delinsGGC
XM_011528010.1:c.1061-111_1061-109delinsGGC XP_011526312.1:n.1061-111_1061-109delinsGGC
XM_011528011.1:c.680-111_680-109delinsGGC XP_011526313.1:n.680-111_680-109delinsGGC
XR_244074.2:n.1211-111_1211-109delinsGGC
XM_011528010.2:c.1061-111_1061-109delinsGGC XP_011526312.1:n.1061-111_1061-109delinsGGC
XR_001753685.2:n.1178-111_1178-109delinsGGC
XR_001753686.2:n.1178-111_1178-109delinsGGC
NM_000527.5:c.1061-111_1061-109delinsGGC MANE Select NP_000518.1:n.1061-111_1061-109delinsGGC
NM_001195798.2:c.1061-111_1061-109delinsGGC NP_001182727.1:n.1061-111_1061-109delinsGGC
NM_001195799.2:c.938-111_938-109delinsGGC NP_001182728.1:n.938-111_938-109delinsGGC
NM_001195800.2:c.557-111_557-109delinsGGC NP_001182729.1:n.557-111_557-109delinsGGC
NM_001195803.2:c.680-111_680-109delinsGGC NP_001182732.1:n.680-111_680-109delinsGGC