Canonical Allele Identifier: CA3260672767
Community Standard Title: NC_000019.10:g.11110651_11116093del
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11110651_11116093del , CM000681.2:g.11110651_11116093del GRCh38

Transcript Alleles

HGVS Amino-acid Change
NM_000527.4:c.941-1_1587-1del , LRG_274t1:c.941-1_1587-1del
NM_000527.5:c.941-1_1587-1del
NM_001195798.1:c.941-1_1587-1del
NM_001195798.2:c.941-1_1587-1del
NM_001195799.1:c.818-1_1464-1del
NM_001195799.2:c.818-1_1464-1del
NM_001195800.1:c.437-1_1083-1del
NM_001195800.2:c.437-1_1083-1del
NM_001195803.1:c.560-1_1206-1del
NM_001195803.2:c.560-1_1206-1del
ENST00000252444.10:c.1199-1_1845-1del
ENST00000252444.9:c.1195-1_1841-1del
ENST00000455727.6:c.437-1_1083-1del
ENST00000535915.5:c.818-1_1464-1del
ENST00000545707.5:c.560-1_1206-1del
ENST00000557933.5:c.941-1_1587-1del
ENST00000558013.5:c.941-1_1587-1del
ENST00000558518.5:c.941-1_1587-1del
ENST00000558518.6:c.941-1_1587-1del
ENST00000559340.2:c.941-1_1587-1del
ENST00000560467.2:c.941-863_1467-1del
XM_011528010.1:c.941-1_1587-1del
XM_011528010.2:c.941-1_1587-1del
XM_011528011.1:c.560-1_1206-1del
XR_001753685.2:n.1058-1_1704-1del
XR_001753686.2:n.1058-1_1704-1del
XR_244074.2:n.1091-1_1737-1del