Canonical Allele Identifier: CA645373237
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 430789
ClinVar RCV Id: RCV000495940
dbSNP Id: rs1131692219

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120092_11120111del , CM000681.2:g.11120092_11120111del GRCh38
NC_000019.9:g.11230768_11230787del , CM000681.1:g.11230768_11230787del GRCh37
NC_000019.8:g.11091768_11091787del NCBI36
NG_009060.1:g.35712_35731del , LRG_274:g.35712_35731del

Transcript Alleles

HGVS Amino-acid change
ENST00000252444.10:c.2104_2123del ENSP00000252444.6:p.Asp702TyrfsTer22
ENST00000559340.2:c.1706_1725del ENSP00000453696.2:p.Gly569ValfsTer?
ENST00000560467.2:c.1726_1745del ENSP00000453513.2:p.Asp576TyrfsTer22
ENST00000558518.6:c.1846_1865del MANE Select ENSP00000454071.1:p.Asp616TyrfsTer22
ENST00000252444.9:c.2100_2119del
ENST00000455727.6:c.1342_1361del ENSP00000397829.2:p.Asp448TyrfsTer22
ENST00000535915.5:c.1723_1742del ENSP00000440520.1:p.Asp575TyrfsTer22
ENST00000545707.5:c.1465_1484del ENSP00000437639.1:p.Asp489TyrfsTer22
ENST00000557933.5:c.1846_1865del ENSP00000453557.1:p.Asp616TyrfsTer22
ENST00000558013.5:c.1846_1865del ENSP00000453346.1:p.Asp616TyrfsTer22
ENST00000558518.5:c.1846_1865del ENSP00000454071.1:p.Asp616TyrfsTer22
ENST00000559340.1:c.427_446del
NM_000527.4:c.1846_1865del , LRG_274t1:c.1846_1865del NP_000518.1:p.Asp616TyrfsTer22
NM_001195798.1:c.1846_1865del NP_001182727.1:p.Asp616TyrfsTer22
NM_001195799.1:c.1723_1742del NP_001182728.1:p.Asp575TyrfsTer22
NM_001195800.1:c.1342_1361del NP_001182729.1:p.Asp448TyrfsTer22
NM_001195803.1:c.1465_1484del NP_001182732.1:p.Asp489TyrfsTer22
XM_011528010.1:c.1846_1865del XP_011526312.1:p.Asp616TyrfsTer22
XM_011528011.1:c.1465_1484del XP_011526313.1:p.Asp489TyrfsTer22
XR_244074.2:n.1856_1875del
XM_011528010.2:c.1846_1865del XP_011526312.1:p.Asp616TyrfsTer22
XR_001753685.2:n.1963_1982del
XR_001753686.2:n.1823_1842del
NM_000527.5:c.1846_1865del MANE Select NP_000518.1:p.Asp616TyrfsTer22
NM_001195798.2:c.1846_1865del NP_001182727.1:p.Asp616TyrfsTer22
NM_001195799.2:c.1723_1742del NP_001182728.1:p.Asp575TyrfsTer22
NM_001195800.2:c.1342_1361del NP_001182729.1:p.Asp448TyrfsTer22
NM_001195803.2:c.1465_1484del NP_001182732.1:p.Asp489TyrfsTer22