Canonical Allele Identifier: CA2573320454
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11122220_11129195del , CM000681.2:g.11122220_11129195del GRCh38
NC_000019.9:g.11232896_11239871del , CM000681.1:g.11232896_11239871del GRCh37
NC_000019.8:g.11093896_11100871del NCBI36
NG_009060.1:g.37840_44815del , LRG_274:g.37840_44815del

Transcript Alleles

HGVS Amino-acid change
ENST00000252444.10:c.2399-954_2648-318del
ENST00000559340.2:c.*210-954_*459-318del
ENST00000560467.2:c.2021-954_2270-318del
ENST00000558518.6:c.2141-954_2390-318del
ENST00000252444.9:c.2395-954_2644-318del
ENST00000455727.6:c.1637-954_1886-318del
ENST00000535915.5:c.2018-954_2267-318del
ENST00000545707.5:c.1607-954_1856-318del
ENST00000557933.5:c.2141-954_2390-256del
ENST00000558013.5:c.2141-954_2390-318del
ENST00000558518.5:c.2141-954_2390-318del
NM_000527.4:c.2141-954_2390-318del , LRG_274t1:c.2141-954_2390-318del
NM_001195798.1:c.2141-954_2390-318del
NM_001195799.1:c.2018-954_2267-318del
NM_001195800.1:c.1637-954_1886-318del
NM_001195803.1:c.1607-954_1856-318del
XM_011528010.1:c.2141-954_2312-318del
XM_011528011.1:c.1760-954_2009-318del
XR_244074.2:n.2151-954_2400-318del
XM_011528010.2:c.2141-954_2312-318del
XR_001753685.2:n.2475-954_2724-318del
XR_001753686.2:n.2118-954_2367-318del
NM_000527.5:c.2141-954_2390-318del
NM_001195798.2:c.2141-954_2390-318del
NM_001195799.2:c.2018-954_2267-318del
NM_001195800.2:c.1637-954_1886-318del
NM_001195803.2:c.1607-954_1856-318del