Canonical Allele Identifier: CA2695195458
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113244_11120565del , CM000681.2:g.11113244_11120565del GRCh38
NC_000019.9:g.11223920_11231241del , CM000681.1:g.11223920_11231241del GRCh37
NC_000019.8:g.11084920_11092241del NCBI36
NG_009060.1:g.28864_36185del , LRG_274:g.28864_36185del

Transcript Alleles

HGVS Amino-acid change
ENST00000252444.10:c.1445-34_2398+43del
ENST00000559340.2:c.1187-34_*209+43del
ENST00000560467.2:c.1067-34_2020+43del
ENST00000558518.6:c.1187-34_2140+43del
ENST00000252444.9:c.1441-34_2394+43del
ENST00000455727.6:c.683-34_1636+43del
ENST00000535915.5:c.1064-34_2017+43del
ENST00000545707.5:c.806-34_1606+332del
ENST00000557933.5:c.1187-34_2140+43del
ENST00000558013.5:c.1187-34_2140+43del
ENST00000558518.5:c.1187-34_2140+43del
NM_000527.4:c.1187-34_2140+43del , LRG_274t1:c.1187-34_2140+43del
NM_001195798.1:c.1187-34_2140+43del
NM_001195799.1:c.1064-34_2017+43del
NM_001195800.1:c.683-34_1636+43del
NM_001195803.1:c.806-34_1606+332del
XM_011528010.1:c.1187-34_2140+43del
XM_011528011.1:c.806-34_1759+43del
XR_244074.2:n.1337-34_2150+43del
XM_011528010.2:c.1187-34_2140+43del
XR_001753685.2:n.1304-34_2300del
XR_001753686.2:n.1304-34_2117+43del
NM_000527.5:c.1187-34_2140+43del
NM_001195798.2:c.1187-34_2140+43del
NM_001195799.2:c.1064-34_2017+43del
NM_001195800.2:c.683-34_1636+43del
NM_001195803.2:c.806-34_1606+332del