Canonical Allele Identifier: CA915952545
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 654906
ClinVar RCV Id: RCV000810973
dbSNP Id: rs1600726930

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113448_11113498del , CM000681.2:g.11113448_11113498del GRCh38
NC_000019.9:g.11224124_11224174del , CM000681.1:g.11224124_11224174del GRCh37
NC_000019.8:g.11085124_11085174del NCBI36
NG_009060.1:g.29068_29118del , LRG_274:g.29068_29118del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1615_1617-37del
ENST00000559340.2:c.1357_1359-37del
ENST00000560467.2:c.1237_1239-37del
ENST00000558518.6:c.1357_1359-37del
ENST00000252444.9:c.1611_1613-37del
ENST00000455727.6:c.853_855-37del
ENST00000535915.5:c.1234_1236-37del
ENST00000545707.5:c.976_978-37del
ENST00000557933.5:c.1357_1359-37del
ENST00000558013.5:c.1357_1359-37del
ENST00000558518.5:c.1357_1359-37del
ENST00000559340.1:c.78_80-37del
ENST00000560467.1:c.837_839-37del
NM_000527.4:c.1357_1359-37del , LRG_274t1:c.1357_1359-37del
NM_001195798.1:c.1357_1359-37del
NM_001195799.1:c.1234_1236-37del
NM_001195800.1:c.853_855-37del
NM_001195803.1:c.976_978-37del
XM_011528010.1:c.1357_1359-37del
XM_011528011.1:c.976_978-37del
XR_244074.2:n.1507_1509-37del
XM_011528010.2:c.1357_1359-37del
XR_001753685.2:n.1474_1476-37del
XR_001753686.2:n.1474_1476-37del
NM_000527.5:c.1357_1359-37del
NM_001195798.2:c.1357_1359-37del
NM_001195799.2:c.1234_1236-37del
NM_001195800.2:c.853_855-37del
NM_001195803.2:c.976_978-37del