Canonical Allele Identifier: CA2580612594
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11104774_11112892dup , CM000681.2:g.11104774_11112892dup GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.572-446_1445-386dup
ENST00000559340.2:c.314-446_1187-386dup
ENST00000560467.2:c.314-446_1067-386dup
ENST00000558518.6:c.314-446_1187-386dup
ENST00000252444.9:c.568-446_1441-386dup
ENST00000455727.6:c.313+1988_683-386dup
ENST00000535915.5:c.191-446_1064-386dup
ENST00000545707.5:c.314-1791_806-386dup
ENST00000557933.5:c.314-446_1187-386dup
ENST00000558013.5:c.314-446_1187-386dup
ENST00000558518.5:c.314-446_1187-386dup
NM_000527.4:c.314-446_1187-386dup , LRG_274t1:c.314-446_1187-386dup
NM_001195798.1:c.314-446_1187-386dup
NM_001195799.1:c.191-446_1064-386dup
NM_001195800.1:c.313+1988_683-386dup
NM_001195803.1:c.314-1791_806-386dup
XM_011528010.1:c.314-446_1187-386dup
XM_011528011.1:c.314-1791_806-386dup
XR_244074.2:n.464-446_1337-386dup
XM_011528010.2:c.314-446_1187-386dup
XR_001753685.2:n.431-446_1304-386dup
XR_001753686.2:n.431-446_1304-386dup
NM_000527.5:c.314-446_1187-386dup
NM_001195798.2:c.314-446_1187-386dup
NM_001195799.2:c.191-446_1064-386dup
NM_001195800.2:c.313+1988_683-386dup
NM_001195803.2:c.314-1791_806-386dup