Canonical Allele Identifier: CA10585283
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11111514_11116998del , CM000681.2:g.11111514_11116998del GRCh38
NC_000019.9:g.11222190_11227674del , CM000681.1:g.11222190_11227674del GRCh37
NC_000019.8:g.11083190_11088674del NCBI36
NG_009060.1:g.27134_32618del , LRG_274:g.27134_32618del

Transcript Alleles

HGVS Amino-acid change
ENST00000252444.10:c.1319_2103del
ENST00000559340.2:c.1061_1705+786del
ENST00000560467.2:c.941_1725del
ENST00000558518.6:c.1061_1845del
ENST00000252444.9:c.1315_2099del
ENST00000455727.6:c.557_1341del
ENST00000535915.5:c.938_1722del
ENST00000545707.5:c.680_1464del
ENST00000557933.5:c.1061_1845del
ENST00000558013.5:c.1061_1845del
ENST00000558518.5:c.1061_1845del
NM_000527.4:c.1061_1845del , LRG_274t1:c.1061_1845del
NM_001195798.1:c.1061_1845del
NM_001195799.1:c.938_1722del
NM_001195800.1:c.557_1341del
NM_001195803.1:c.680_1464del
XM_011528010.1:c.1061_1845del
XM_011528011.1:c.680_1464del
XR_244074.2:n.1211_1855+786del
XM_011528010.2:c.1061_1845del
XR_001753685.2:n.1178_1962del
XR_001753686.2:n.1178_1822+786del
NM_000527.5:c.1061_1845del
NM_001195798.2:c.1061_1845del
NM_001195799.2:c.938_1722del
NM_001195800.2:c.557_1341del
NM_001195803.2:c.680_1464del