Canonical Allele Identifier: CA10576319

Gene: LDLR

Linked Data

• ClinVar Variation Id: 226373
• ClinVar RCV Id: RCV000211702
• dbSNP Id: rs875989931
• MyVariant Identifiers: chr19:g.11227605_11227607del (hg19) ; chr19:g.11116929_11116931del (hg38)
• PubMed: PMID:22881376 ; PMID:22883975

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11116929_11116931del , CM000681.2:g.11116929_11116931del	GRCh38
NC_000019.9:g.11227605_11227607del , CM000681.1:g.11227605_11227607del	GRCh37
NC_000019.8:g.11088605_11088607del	NCBI36
NG_009060.1:g.32549_32551del , LRG_274:g.32549_32551del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2034_2036del	ENSP00000252444.6:p.Gly679del
ENST00000559340.2:c.1705+717_1705+719del	ENSP00000453696.2:n.1705+717_1705+719del
ENST00000560467.2:c.1656_1658del	ENSP00000453513.2:p.Gly553del
ENST00000558518.6:c.1776_1778del MANE Select	ENSP00000454071.1:p.Gly593del
ENST00000252444.9:c.2030_2032del
ENST00000455727.6:c.1272_1274del	ENSP00000397829.2:p.Gly425del
ENST00000535915.5:c.1653_1655del	ENSP00000440520.1:p.Gly552del
ENST00000545707.5:c.1395_1397del	ENSP00000437639.1:p.Gly466del
ENST00000557933.5:c.1776_1778del	ENSP00000453557.1:p.Gly593del
ENST00000558013.5:c.1776_1778del	ENSP00000453346.1:p.Gly593del
ENST00000558518.5:c.1776_1778del	ENSP00000454071.1:p.Gly593del
ENST00000559340.1:c.426+717_426+719del
NM_000527.4:c.1776_1778del , LRG_274t1:c.1776_1778del	NP_000518.1:p.Gly593del
NM_001195798.1:c.1776_1778del	NP_001182727.1:p.Gly593del
NM_001195799.1:c.1653_1655del	NP_001182728.1:p.Gly552del
NM_001195800.1:c.1272_1274del	NP_001182729.1:p.Gly425del
NM_001195803.1:c.1395_1397del	NP_001182732.1:p.Gly466del
XM_011528010.1:c.1776_1778del	XP_011526312.1:p.Gly593del
XM_011528011.1:c.1395_1397del	XP_011526313.1:p.Gly466del
XR_244074.2:n.1855+717_1855+719del
XM_011528010.2:c.1776_1778del	XP_011526312.1:p.Gly593del
XR_001753685.2:n.1893_1895del
XR_001753686.2:n.1822+717_1822+719del
NM_000527.5:c.1776_1778del MANE Select	NP_000518.1:p.Gly593del
NM_001195798.2:c.1776_1778del	NP_001182727.1:p.Gly593del
NM_001195799.2:c.1653_1655del	NP_001182728.1:p.Gly552del
NM_001195800.2:c.1272_1274del	NP_001182729.1:p.Gly425del
NM_001195803.2:c.1395_1397del	NP_001182732.1:p.Gly466del