Canonical Allele Identifier: CA2580096326

Gene: LDLR

Linked Data

• ClinVar Variation Id: 1778445
• ClinVar RCV Id: RCV002414737

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11116859_11116868del , CM000681.2:g.11116859_11116868del	GRCh38
NC_000019.9:g.11227535_11227544del , CM000681.1:g.11227535_11227544del	GRCh37
NC_000019.8:g.11088535_11088544del	NCBI36
NG_009060.1:g.32479_32488del , LRG_274:g.32479_32488del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1964_1973del
ENST00000559340.2:c.1705+647_1705+656del	ENSP00000453696.2:n.1705+647_1705+656del
ENST00000560467.2:c.1586_1595del
ENST00000558518.6:c.1706_1715del
ENST00000252444.9:c.1960_1969del
ENST00000455727.6:c.1202_1211del
ENST00000535915.5:c.1583_1592del
ENST00000545707.5:c.1325_1334del
ENST00000557933.5:c.1706_1715del
ENST00000558013.5:c.1706_1715del
ENST00000558518.5:c.1706_1715del
ENST00000559340.1:c.426+647_426+656del
NM_000527.4:c.1706_1715del , LRG_274t1:c.1706_1715del
NM_001195798.1:c.1706_1715del
NM_001195799.1:c.1583_1592del
NM_001195800.1:c.1202_1211del
NM_001195803.1:c.1325_1334del
XM_011528010.1:c.1706_1715del
XM_011528011.1:c.1325_1334del
XR_244074.2:n.1855+647_1855+656del
XM_011528010.2:c.1706_1715del
XR_001753685.2:n.1823_1832del
XR_001753686.2:n.1822+647_1822+656del
NM_000527.5:c.1706_1715del
NM_001195798.2:c.1706_1715del
NM_001195799.2:c.1583_1592del
NM_001195800.2:c.1202_1211del
NM_001195803.2:c.1325_1334del