Canonical Allele Identifier: CA404079331
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251409
ClinVar RCV Id: RCV000238414

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11106498_11114133del , CM000681.2:g.11106498_11114133del GRCh38

Transcript Alleles

HGVS Amino-acid change
ENST00000252444.10:c.953-67_1844+371del
ENST00000559340.2:c.695-67_1586+371del
ENST00000560467.2:c.695-67_1466+371del
ENST00000558518.6:c.695-67_1586+371del
ENST00000252444.9:c.949-67_1840+371del
ENST00000455727.6:c.314-894_1082+371del
ENST00000535915.5:c.572-67_1463+371del
ENST00000545707.5:c.314-67_1205+371del
ENST00000557933.5:c.695-67_1586+371del
ENST00000558013.5:c.695-67_1586+371del
ENST00000558518.5:c.695-67_1586+371del
NM_000527.4:c.695-67_1586+371del , LRG_274t1:c.695-67_1586+371del
NM_001195798.1:c.695-67_1586+371del
NM_001195799.1:c.572-67_1463+371del
NM_001195800.1:c.314-894_1082+371del
NM_001195803.1:c.314-67_1205+371del
XM_011528010.1:c.695-67_1586+371del
XM_011528011.1:c.314-67_1205+371del
XR_244074.2:n.845-67_1736+371del
XM_011528010.2:c.695-67_1586+371del
XR_001753685.2:n.812-67_1703+371del
XR_001753686.2:n.812-67_1703+371del
NM_000527.5:c.695-67_1586+371del
NM_001195798.2:c.695-67_1586+371del
NM_001195799.2:c.572-67_1463+371del
NM_001195800.2:c.314-894_1082+371del
NM_001195803.2:c.314-67_1205+371del