Canonical Allele Identifier: CA645509286

Gene: LDLR

Linked Data

• ClinVar Variation Id: 440660
• ClinVar RCV Id: RCV000508964
• dbSNP Id: rs1555806467
• MyVariant Identifiers: chr19:g.11227598_11227603del (hg19) ; chr19:g.11116922_11116927del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11116922_11116927del , CM000681.2:g.11116922_11116927del	GRCh38
NC_000019.9:g.11227598_11227603del , CM000681.1:g.11227598_11227603del	GRCh37
NC_000019.8:g.11088598_11088603del	NCBI36
NG_009060.1:g.32542_32547del , LRG_274:g.32542_32547del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2027_2032del	ENSP00000252444.6:p.Val676_Asn677del
ENST00000559340.2:c.1705+710_1705+715del	ENSP00000453696.2:n.1705+710_1705+715del
ENST00000560467.2:c.1649_1654del	ENSP00000453513.2:p.Val550_Asn551del
ENST00000558518.6:c.1769_1774del MANE Select	ENSP00000454071.1:p.Val590_Asn591del
ENST00000252444.9:c.2023_2028del
ENST00000455727.6:c.1265_1270del	ENSP00000397829.2:p.Val422_Asn423del
ENST00000535915.5:c.1646_1651del	ENSP00000440520.1:p.Val549_Asn550del
ENST00000545707.5:c.1388_1393del	ENSP00000437639.1:p.Val463_Asn464del
ENST00000557933.5:c.1769_1774del	ENSP00000453557.1:p.Val590_Asn591del
ENST00000558013.5:c.1769_1774del	ENSP00000453346.1:p.Val590_Asn591del
ENST00000558518.5:c.1769_1774del	ENSP00000454071.1:p.Val590_Asn591del
ENST00000559340.1:c.426+710_426+715del
NM_000527.4:c.1769_1774del , LRG_274t1:c.1769_1774del	NP_000518.1:p.Val590_Asn591del
NM_001195798.1:c.1769_1774del	NP_001182727.1:p.Val590_Asn591del
NM_001195799.1:c.1646_1651del	NP_001182728.1:p.Val549_Asn550del
NM_001195800.1:c.1265_1270del	NP_001182729.1:p.Val422_Asn423del
NM_001195803.1:c.1388_1393del	NP_001182732.1:p.Val463_Asn464del
XM_011528010.1:c.1769_1774del	XP_011526312.1:p.Val590_Asn591del
XM_011528011.1:c.1388_1393del	XP_011526313.1:p.Val463_Asn464del
XR_244074.2:n.1855+710_1855+715del
XM_011528010.2:c.1769_1774del	XP_011526312.1:p.Val590_Asn591del
XR_001753685.2:n.1886_1891del
XR_001753686.2:n.1822+710_1822+715del
NM_000527.5:c.1769_1774del MANE Select	NP_000518.1:p.Val590_Asn591del
NM_001195798.2:c.1769_1774del	NP_001182727.1:p.Val590_Asn591del
NM_001195799.2:c.1646_1651del	NP_001182728.1:p.Val549_Asn550del
NM_001195800.2:c.1265_1270del	NP_001182729.1:p.Val422_Asn423del
NM_001195803.2:c.1388_1393del	NP_001182732.1:p.Val463_Asn464del