Canonical Allele Identifier: CA2573050600
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113656_11116108del , CM000681.2:g.11113656_11116108del GRCh38
NC_000019.9:g.11224332_11226784del , CM000681.1:g.11224332_11226784del GRCh37
NC_000019.8:g.11085332_11087784del NCBI36
NG_009060.1:g.29276_31728del , LRG_274:g.29276_31728del

Transcript Alleles

HGVS Amino-acid change
ENST00000252444.10:c.1738_1859del
ENST00000559340.2:c.1480_1601del
ENST00000560467.2:c.1360_1481del
ENST00000558518.6:c.1480_1601del
ENST00000252444.9:c.1734_1855del
ENST00000455727.6:c.976_1097del
ENST00000535915.5:c.1357_1478del
ENST00000545707.5:c.1099_1220del
ENST00000557933.5:c.1480_1601del
ENST00000558013.5:c.1480_1601del
ENST00000558518.5:c.1480_1601del
ENST00000559340.1:c.201_322del
NM_000527.4:c.1480_1601del , LRG_274t1:c.1480_1601del
NM_001195798.1:c.1480_1601del
NM_001195799.1:c.1357_1478del
NM_001195800.1:c.976_1097del
NM_001195803.1:c.1099_1220del
XM_011528010.1:c.1480_1601del
XM_011528011.1:c.1099_1220del
XR_244074.2:n.1630_1751del
XM_011528010.2:c.1480_1601del
XR_001753685.2:n.1597_1718del
XR_001753686.2:n.1597_1718del
NM_000527.5:c.1480_1601del
NM_001195798.2:c.1480_1601del
NM_001195799.2:c.1357_1478del
NM_001195800.2:c.976_1097del
NM_001195803.2:c.1099_1220del