Canonical Allele Identifier: CA658824574

Gene: LDLR

Linked Data

• ClinVar Variation Id: 548091
• ClinVar RCV Id: RCV000660730

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120091_11120523del , CM000681.2:g.11120091_11120523del	GRCh38
NC_000019.9:g.11230767_11231199del , CM000681.1:g.11230767_11231199del	GRCh37
NC_000019.8:g.11091767_11092199del	NCBI36
NG_009060.1:g.35711_36143del , LRG_274:g.35711_36143del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2104-1_2398+1del
ENST00000559340.2:c.1706-1_*209+1del
ENST00000560467.2:c.1726-1_2020+1del
ENST00000558518.6:c.1846-1_2140+1del
ENST00000252444.9:c.2100-1_2394+1del
ENST00000455727.6:c.1342-1_1636+1del
ENST00000535915.5:c.1723-1_2017+1del
ENST00000545707.5:c.1465-1_1606+290del
ENST00000557933.5:c.1846-1_2140+1del
ENST00000558013.5:c.1846-1_2140+1del
ENST00000558518.5:c.1846-1_2140+1del
NM_000527.4:c.1846-1_2140+1del , LRG_274t1:c.1846-1_2140+1del
NM_001195798.1:c.1846-1_2140+1del
NM_001195799.1:c.1723-1_2017+1del
NM_001195800.1:c.1342-1_1636+1del
NM_001195803.1:c.1465-1_1606+290del
XM_011528010.1:c.1846-1_2140+1del
XM_011528011.1:c.1465-1_1759+1del
XR_244074.2:n.1856-1_2150+1del
XM_011528010.2:c.1846-1_2140+1del
XR_001753685.2:n.1963-1_2258del
XR_001753686.2:n.1823-1_2117+1del
NM_000527.5:c.1846-1_2140+1del
NM_001195798.2:c.1846-1_2140+1del
NM_001195799.2:c.1723-1_2017+1del
NM_001195800.2:c.1342-1_1636+1del
NM_001195803.2:c.1465-1_1606+290del