Canonical Allele Identifier: CA645373257
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 431534
ClinVar RCV Id: RCV000497126
dbSNP Id: rs1135402777

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11116180_11116183del , CM000681.2:g.11116180_11116183del GRCh38
NC_000019.9:g.11226856_11226859del , CM000681.1:g.11226856_11226859del GRCh37
NC_000019.8:g.11087856_11087859del NCBI36
NG_009060.1:g.31800_31803del , LRG_274:g.31800_31803del

Transcript Alleles

HGVS Amino-acid change
ENST00000252444.10:c.1931_1934del ENSP00000252444.6:p.Glu644AlafsTer10
ENST00000559340.2:c.1673_1676del ENSP00000453696.2:p.Glu558AlafsTer10
ENST00000560467.2:c.1553_1556del ENSP00000453513.2:p.Glu518AlafsTer10
ENST00000558518.6:c.1673_1676del MANE Select ENSP00000454071.1:p.Glu558AlafsTer10
ENST00000252444.9:c.1927_1930del
ENST00000455727.6:c.1169_1172del ENSP00000397829.2:p.Glu390AlafsTer10
ENST00000535915.5:c.1550_1553del ENSP00000440520.1:p.Glu517AlafsTer10
ENST00000545707.5:c.1292_1295del ENSP00000437639.1:p.Glu431AlafsTer10
ENST00000557933.5:c.1673_1676del ENSP00000453557.1:p.Glu558AlafsTer10
ENST00000558013.5:c.1673_1676del ENSP00000453346.1:p.Glu558AlafsTer10
ENST00000558518.5:c.1673_1676del ENSP00000454071.1:p.Glu558AlafsTer10
ENST00000559340.1:c.394_397del
NM_000527.4:c.1673_1676del , LRG_274t1:c.1673_1676del NP_000518.1:p.Glu558AlafsTer10
NM_001195798.1:c.1673_1676del NP_001182727.1:p.Glu558AlafsTer10
NM_001195799.1:c.1550_1553del NP_001182728.1:p.Glu517AlafsTer10
NM_001195800.1:c.1169_1172del NP_001182729.1:p.Glu390AlafsTer10
NM_001195803.1:c.1292_1295del NP_001182732.1:p.Glu431AlafsTer10
XM_011528010.1:c.1673_1676del XP_011526312.1:p.Glu558AlafsTer10
XM_011528011.1:c.1292_1295del XP_011526313.1:p.Glu431AlafsTer10
XR_244074.2:n.1823_1826del
XM_011528010.2:c.1673_1676del XP_011526312.1:p.Glu558AlafsTer10
XR_001753685.2:n.1790_1793del
XR_001753686.2:n.1790_1793del
NM_000527.5:c.1673_1676del MANE Select NP_000518.1:p.Glu558AlafsTer10
NM_001195798.2:c.1673_1676del NP_001182727.1:p.Glu558AlafsTer10
NM_001195799.2:c.1550_1553del NP_001182728.1:p.Glu517AlafsTer10
NM_001195800.2:c.1169_1172del NP_001182729.1:p.Glu390AlafsTer10
NM_001195803.2:c.1292_1295del NP_001182732.1:p.Glu431AlafsTer10