Canonical Allele Identifier: CA16602332
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 375818
ClinVar RCV Id: RCV000417352
dbSNP Id: rs1057519674

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113747_11113748del , CM000681.2:g.11113747_11113748del GRCh38
NC_000019.9:g.11224423_11224424del , CM000681.1:g.11224423_11224424del GRCh37
NC_000019.8:g.11085423_11085424del NCBI36
NG_009060.1:g.29367_29368del , LRG_274:g.29367_29368del

Transcript Alleles

HGVS Amino-acid change
ENST00000252444.10:c.1829_1830del ENSP00000252444.6:p.Val610GlyfsTer11
ENST00000559340.2:c.1571_1572del ENSP00000453696.2:p.Val524GlyfsTer11
ENST00000560467.2:c.1451_1452del ENSP00000453513.2:p.Val484GlyfsTer11
ENST00000558518.6:c.1571_1572del MANE Select ENSP00000454071.1:p.Val524GlyfsTer11
ENST00000252444.9:c.1825_1826del
ENST00000455727.6:c.1067_1068del ENSP00000397829.2:p.Val356GlyfsTer11
ENST00000535915.5:c.1448_1449del ENSP00000440520.1:p.Val483GlyfsTer11
ENST00000545707.5:c.1190_1191del ENSP00000437639.1:p.Val397GlyfsTer11
ENST00000557933.5:c.1571_1572del ENSP00000453557.1:p.Val524GlyfsTer11
ENST00000558013.5:c.1571_1572del ENSP00000453346.1:p.Val524GlyfsTer11
ENST00000558518.5:c.1571_1572del ENSP00000454071.1:p.Val524GlyfsTer11
ENST00000559340.1:c.292_293del
NM_000527.4:c.1571_1572del , LRG_274t1:c.1571_1572del NP_000518.1:p.Val524GlyfsTer11
NM_001195798.1:c.1571_1572del NP_001182727.1:p.Val524GlyfsTer11
NM_001195799.1:c.1448_1449del NP_001182728.1:p.Val483GlyfsTer11
NM_001195800.1:c.1067_1068del NP_001182729.1:p.Val356GlyfsTer11
NM_001195803.1:c.1190_1191del NP_001182732.1:p.Val397GlyfsTer11
XM_011528010.1:c.1571_1572del XP_011526312.1:p.Val524GlyfsTer11
XM_011528011.1:c.1190_1191del XP_011526313.1:p.Val397GlyfsTer11
XR_244074.2:n.1721_1722del
XM_011528010.2:c.1571_1572del XP_011526312.1:p.Val524GlyfsTer11
XR_001753685.2:n.1688_1689del
XR_001753686.2:n.1688_1689del
NM_000527.5:c.1571_1572del MANE Select NP_000518.1:p.Val524GlyfsTer11
NM_001195798.2:c.1571_1572del NP_001182727.1:p.Val524GlyfsTer11
NM_001195799.2:c.1448_1449del NP_001182728.1:p.Val483GlyfsTer11
NM_001195800.2:c.1067_1068del NP_001182729.1:p.Val356GlyfsTer11
NM_001195803.2:c.1190_1191del NP_001182732.1:p.Val397GlyfsTer11