Canonical Allele Identifier: CA1139666270
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 977989
dbSNP Id: rs2077410686

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113400_11113401insTCGCTCTGGACACGTAGGTGG , CM000681.2:g.11113400_11113401insTCGCTCTGGACACGTAGGTGG GRCh38
NC_000019.9:g.11224076_11224077insTCGCTCTGGACACGTAGGTGG , CM000681.1:g.11224076_11224077insTCGCTCTGGACACGTAGGTGG GRCh37
NC_000019.8:g.11085076_11085077insTCGCTCTGGACACGTAGGTGG NCBI36
NG_009060.1:g.29020_29021insTCGCTCTGGACACGTAGGTGG , LRG_274:g.29020_29021insTCGCTCTGGACACGTAGGTGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1567_1568insTCGCTCTGGACACGTAGGTGG ENSP00000252444.6:p.Ala523ValfsTer6
ENST00000559340.2:c.1309_1310insTCGCTCTGGACACGTAGGTGG ENSP00000453696.2:p.Ala437ValfsTer6
ENST00000560467.2:c.1189_1190insTCGCTCTGGACACGTAGGTGG ENSP00000453513.2:p.Ala397ValfsTer6
ENST00000558518.6:c.1309_1310insTCGCTCTGGACACGTAGGTGG MANE Select ENSP00000454071.1:p.Ala437ValfsTer6
ENST00000252444.9:c.1563_1564insTCGCTCTGGACACGTAGGTGG
ENST00000455727.6:c.805_806insTCGCTCTGGACACGTAGGTGG ENSP00000397829.2:p.Ala269ValfsTer6
ENST00000535915.5:c.1186_1187insTCGCTCTGGACACGTAGGTGG ENSP00000440520.1:p.Ala396ValfsTer6
ENST00000545707.5:c.928_929insTCGCTCTGGACACGTAGGTGG ENSP00000437639.1:p.Ala310ValfsTer6
ENST00000557933.5:c.1309_1310insTCGCTCTGGACACGTAGGTGG ENSP00000453557.1:p.Ala437ValfsTer6
ENST00000558013.5:c.1309_1310insTCGCTCTGGACACGTAGGTGG ENSP00000453346.1:p.Ala437ValfsTer6
ENST00000558518.5:c.1309_1310insTCGCTCTGGACACGTAGGTGG ENSP00000454071.1:p.Ala437ValfsTer6
ENST00000559340.1:c.30_31insTCGCTCTGGACACGTAGGTGG
ENST00000560173.1:n.308_309insTCGCTCTGGACACGTAGGTGG
ENST00000560467.1:c.789_790insTCGCTCTGGACACGTAGGTGG
NM_000527.4:c.1309_1310insTCGCTCTGGACACGTAGGTGG , LRG_274t1:c.1309_1310insTCGCTCTGGACACGTAGGTGG NP_000518.1:p.Ala437ValfsTer6
NM_001195798.1:c.1309_1310insTCGCTCTGGACACGTAGGTGG NP_001182727.1:p.Ala437ValfsTer6
NM_001195799.1:c.1186_1187insTCGCTCTGGACACGTAGGTGG NP_001182728.1:p.Ala396ValfsTer6
NM_001195800.1:c.805_806insTCGCTCTGGACACGTAGGTGG NP_001182729.1:p.Ala269ValfsTer6
NM_001195803.1:c.928_929insTCGCTCTGGACACGTAGGTGG NP_001182732.1:p.Ala310ValfsTer6
XM_011528010.1:c.1309_1310insTCGCTCTGGACACGTAGGTGG XP_011526312.1:p.Ala437ValfsTer6
XM_011528011.1:c.928_929insTCGCTCTGGACACGTAGGTGG XP_011526313.1:p.Ala310ValfsTer6
XR_244074.2:n.1459_1460insTCGCTCTGGACACGTAGGTGG
XM_011528010.2:c.1309_1310insTCGCTCTGGACACGTAGGTGG XP_011526312.1:p.Ala437ValfsTer6
XR_001753685.2:n.1426_1427insTCGCTCTGGACACGTAGGTGG
XR_001753686.2:n.1426_1427insTCGCTCTGGACACGTAGGTGG
NM_000527.5:c.1309_1310insTCGCTCTGGACACGTAGGTGG MANE Select NP_000518.1:p.Ala437ValfsTer6
NM_001195798.2:c.1309_1310insTCGCTCTGGACACGTAGGTGG NP_001182727.1:p.Ala437ValfsTer6
NM_001195799.2:c.1186_1187insTCGCTCTGGACACGTAGGTGG NP_001182728.1:p.Ala396ValfsTer6
NM_001195800.2:c.805_806insTCGCTCTGGACACGTAGGTGG NP_001182729.1:p.Ala269ValfsTer6
NM_001195803.2:c.928_929insTCGCTCTGGACACGTAGGTGG NP_001182732.1:p.Ala310ValfsTer6