Canonical Allele Identifier: CA645373236
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 431530
ClinVar RCV Id: RCV000497152
dbSNP Id: rs1135402776

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113749_11113767del , CM000681.2:g.11113749_11113767del GRCh38
NC_000019.9:g.11224425_11224443del , CM000681.1:g.11224425_11224443del GRCh37
NC_000019.8:g.11085425_11085443del NCBI36
NG_009060.1:g.29369_29387del , LRG_274:g.29369_29387del

Transcript Alleles

HGVS Amino-acid change
ENST00000252444.10:c.1831_1844+5del
ENST00000559340.2:c.1573_1586+5del
ENST00000560467.2:c.1453_1466+5del
ENST00000558518.6:c.1573_1586+5del
ENST00000252444.9:c.1827_1840+5del
ENST00000455727.6:c.1069_1082+5del
ENST00000535915.5:c.1450_1463+5del
ENST00000545707.5:c.1192_1205+5del
ENST00000557933.5:c.1573_1586+5del
ENST00000558013.5:c.1573_1586+5del
ENST00000558518.5:c.1573_1586+5del
ENST00000559340.1:c.294_307+5del
NM_000527.4:c.1573_1586+5del , LRG_274t1:c.1573_1586+5del
NM_001195798.1:c.1573_1586+5del
NM_001195799.1:c.1450_1463+5del
NM_001195800.1:c.1069_1082+5del
NM_001195803.1:c.1192_1205+5del
XM_011528010.1:c.1573_1586+5del
XM_011528011.1:c.1192_1205+5del
XR_244074.2:n.1723_1736+5del
XM_011528010.2:c.1573_1586+5del
XR_001753685.2:n.1690_1703+5del
XR_001753686.2:n.1690_1703+5del
NM_000527.5:c.1573_1586+5del
NM_001195798.2:c.1573_1586+5del
NM_001195799.2:c.1450_1463+5del
NM_001195800.2:c.1069_1082+5del
NM_001195803.2:c.1192_1205+5del