Canonical Allele Identifier: CA2322773612

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11116810_11116831delinsTGGGACTGGCATCAGCACGTGA , CM000681.2:g.11116810_11116831delinsTGGGACTGGCATCAGCACGTGA	GRCh38
NC_000019.9:g.11227486_11227507delinsTGGGACTGGCATCAGCACGTGA , CM000681.1:g.11227486_11227507delinsTGGGACTGGCATCAGCACGTGA	GRCh37
NC_000019.8:g.11088486_11088507delinsTGGGACTGGCATCAGCACGTGA	NCBI36
NG_009060.1:g.32430_32451delinsTGGGACTGGCATCAGCACGTGA , LRG_274:g.32430_32451delinsTGGGACTGGCATCAGCACGTGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1964-49_1964-28delinsTGGGACTGGCATCAGCACGTGA	ENSP00000252444.6:n.1964-49_1964-28delins...
ENST00000559340.2:c.1705+598_1705+619delinsTGGGACTGGCATCAGCACGTGA	ENSP00000453696.2:n.1705+598_1705+619deli...
ENST00000560467.2:c.1586-49_1586-28delinsTGGGACTGGCATCAGCACGTGA	ENSP00000453513.2:n.1586-49_1586-28delins...
ENST00000558518.6:c.1706-49_1706-28delinsTGGGACTGGCATCAGCACGTGA MANE Select	ENSP00000454071.1:n.1706-49_1706-28delins...
ENST00000252444.9:c.1960-49_1960-28delinsTGGGACTGGCATCAGCACGTGA
ENST00000455727.6:c.1202-49_1202-28delinsTGGGACTGGCATCAGCACGTGA	ENSP00000397829.2:n.1202-49_1202-28delins...
ENST00000535915.5:c.1583-49_1583-28delinsTGGGACTGGCATCAGCACGTGA	ENSP00000440520.1:n.1583-49_1583-28delins...
ENST00000545707.5:c.1325-49_1325-28delinsTGGGACTGGCATCAGCACGTGA	ENSP00000437639.1:n.1325-49_1325-28delins...
ENST00000557933.5:c.1706-49_1706-28delinsTGGGACTGGCATCAGCACGTGA	ENSP00000453557.1:n.1706-49_1706-28delins...
ENST00000558013.5:c.1706-49_1706-28delinsTGGGACTGGCATCAGCACGTGA	ENSP00000453346.1:n.1706-49_1706-28delins...
ENST00000558518.5:c.1706-49_1706-28delinsTGGGACTGGCATCAGCACGTGA	ENSP00000454071.1:n.1706-49_1706-28delins...
ENST00000559340.1:c.426+598_426+619delinsTGGGACTGGCATCAGCACGTGA
NM_000527.4:c.1706-49_1706-28delinsTGGGACTGGCATCAGCACGTGA , LRG_274t1:c.1706-49_1706-28delinsTGGGACTGGCATCAGCACGTGA	NP_000518.1:n.1706-49_1706-28delinsTGGGAC...
NM_001195798.1:c.1706-49_1706-28delinsTGGGACTGGCATCAGCACGTGA	NP_001182727.1:n.1706-49_1706-28delinsTGG...
NM_001195799.1:c.1583-49_1583-28delinsTGGGACTGGCATCAGCACGTGA	NP_001182728.1:n.1583-49_1583-28delinsTGG...
NM_001195800.1:c.1202-49_1202-28delinsTGGGACTGGCATCAGCACGTGA	NP_001182729.1:n.1202-49_1202-28delinsTGG...
NM_001195803.1:c.1325-49_1325-28delinsTGGGACTGGCATCAGCACGTGA	NP_001182732.1:n.1325-49_1325-28delinsTGG...
XM_011528010.1:c.1706-49_1706-28delinsTGGGACTGGCATCAGCACGTGA	XP_011526312.1:n.1706-49_1706-28delinsTGG...
XM_011528011.1:c.1325-49_1325-28delinsTGGGACTGGCATCAGCACGTGA	XP_011526313.1:n.1325-49_1325-28delinsTGG...
XR_244074.2:n.1855+598_1855+619delinsTGGGACTGGCATCAGCACGTGA
XM_011528010.2:c.1706-49_1706-28delinsTGGGACTGGCATCAGCACGTGA	XP_011526312.1:n.1706-49_1706-28delinsTGG...
XR_001753685.2:n.1823-49_1823-28delinsTGGGACTGGCATCAGCACGTGA
XR_001753686.2:n.1822+598_1822+619delinsTGGGACTGGCATCAGCACGTGA
NM_000527.5:c.1706-49_1706-28delinsTGGGACTGGCATCAGCACGTGA MANE Select	NP_000518.1:n.1706-49_1706-28delinsTGGGAC...
NM_001195798.2:c.1706-49_1706-28delinsTGGGACTGGCATCAGCACGTGA	NP_001182727.1:n.1706-49_1706-28delinsTGG...
NM_001195799.2:c.1583-49_1583-28delinsTGGGACTGGCATCAGCACGTGA	NP_001182728.1:n.1583-49_1583-28delinsTGG...
NM_001195800.2:c.1202-49_1202-28delinsTGGGACTGGCATCAGCACGTGA	NP_001182729.1:n.1202-49_1202-28delinsTGG...
NM_001195803.2:c.1325-49_1325-28delinsTGGGACTGGCATCAGCACGTGA	NP_001182732.1:n.1325-49_1325-28delinsTGG...