Canonical Allele Identifier: CA2739276491

Gene: LDLR

Linked Data

• ClinVar Variation Id: 2823437
• ClinVar RCV Id: RCV003741863

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11116883_11116884delinsAA , CM000681.2:g.11116883_11116884delinsAA	GRCh38
NC_000019.9:g.11227559_11227560delinsAA , CM000681.1:g.11227559_11227560delinsAA	GRCh37
NC_000019.8:g.11088559_11088560delinsAA	NCBI36
NG_009060.1:g.32503_32504delinsAA , LRG_274:g.32503_32504delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1988_1989delinsAA	ENSP00000252444.6:p.Trp663Ter
ENST00000559340.2:c.1705+671_1705+672delinsAA	ENSP00000453696.2:n.1705+671_1705+672delinsAA
ENST00000560467.2:c.1610_1611delinsAA	ENSP00000453513.2:p.Trp537Ter
ENST00000558518.6:c.1730_1731delinsAA MANE Select	ENSP00000454071.1:p.Trp577Ter
ENST00000252444.9:c.1984_1985delinsAA
ENST00000455727.6:c.1226_1227delinsAA	ENSP00000397829.2:p.Trp409Ter
ENST00000535915.5:c.1607_1608delinsAA	ENSP00000440520.1:p.Trp536Ter
ENST00000545707.5:c.1349_1350delinsAA	ENSP00000437639.1:p.Trp450Ter
ENST00000557933.5:c.1730_1731delinsAA	ENSP00000453557.1:p.Trp577Ter
ENST00000558013.5:c.1730_1731delinsAA	ENSP00000453346.1:p.Trp577Ter
ENST00000558518.5:c.1730_1731delinsAA	ENSP00000454071.1:p.Trp577Ter
ENST00000559340.1:c.426+671_426+672delinsAA
NM_000527.4:c.1730_1731delinsAA , LRG_274t1:c.1730_1731delinsAA	NP_000518.1:p.Trp577Ter
NM_001195798.1:c.1730_1731delinsAA	NP_001182727.1:p.Trp577Ter
NM_001195799.1:c.1607_1608delinsAA	NP_001182728.1:p.Trp536Ter
NM_001195800.1:c.1226_1227delinsAA	NP_001182729.1:p.Trp409Ter
NM_001195803.1:c.1349_1350delinsAA	NP_001182732.1:p.Trp450Ter
XM_011528010.1:c.1730_1731delinsAA	XP_011526312.1:p.Trp577Ter
XM_011528011.1:c.1349_1350delinsAA	XP_011526313.1:p.Trp450Ter
XR_244074.2:n.1855+671_1855+672delinsAA
XM_011528010.2:c.1730_1731delinsAA	XP_011526312.1:p.Trp577Ter
XR_001753685.2:n.1847_1848delinsAA
XR_001753686.2:n.1822+671_1822+672delinsAA
NM_000527.5:c.1730_1731delinsAA MANE Select	NP_000518.1:p.Trp577Ter
NM_001195798.2:c.1730_1731delinsAA	NP_001182727.1:p.Trp577Ter
NM_001195799.2:c.1607_1608delinsAA	NP_001182728.1:p.Trp536Ter
NM_001195800.2:c.1226_1227delinsAA	NP_001182729.1:p.Trp409Ter
NM_001195803.2:c.1349_1350delinsAA	NP_001182732.1:p.Trp450Ter