Canonical Allele Identifier: CA2830773956
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120426del , CM000681.2:g.11120426del GRCh38
NC_000019.9:g.11231102del , CM000681.1:g.11231102del GRCh37
NC_000019.8:g.11092102del NCBI36
NG_009060.1:g.36046del , LRG_274:g.36046del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2302del ENSP00000252444.6:p.Leu768SerfsTer27
ENST00000559340.2:c.*113del ENSP00000453696.2:n.*113del
ENST00000560467.2:c.1924del ENSP00000453513.2:p.Leu642SerfsTer27
ENST00000558518.6:c.2044del MANE Select ENSP00000454071.1:p.Leu682SerfsTer27
ENST00000252444.9:c.2298del
ENST00000455727.6:c.1540del ENSP00000397829.2:p.Leu514SerfsTer27
ENST00000535915.5:c.1921del ENSP00000440520.1:p.Leu641SerfsTer27
ENST00000545707.5:c.1606+193del ENSP00000437639.1:n.1606+193del
ENST00000557933.5:c.2044del ENSP00000453557.1:p.Leu682SerfsTer27
ENST00000558013.5:c.2044del ENSP00000453346.1:p.Leu682SerfsTer27
ENST00000558518.5:c.2044del ENSP00000454071.1:p.Leu682SerfsTer27
NM_000527.4:c.2044del , LRG_274t1:c.2044del NP_000518.1:p.Leu682SerfsTer27
NM_001195798.1:c.2044del NP_001182727.1:p.Leu682SerfsTer27
NM_001195799.1:c.1921del NP_001182728.1:p.Leu641SerfsTer27
NM_001195800.1:c.1540del NP_001182729.1:p.Leu514SerfsTer27
NM_001195803.1:c.1606+193del NP_001182732.1:n.1606+193del
XM_011528010.1:c.2044del XP_011526312.1:p.Leu682SerfsTer27
XM_011528011.1:c.1663del XP_011526313.1:p.Leu555SerfsTer27
XR_244074.2:n.2054del
XM_011528010.2:c.2044del XP_011526312.1:p.Leu682SerfsTer27
XR_001753685.2:n.2161del
XR_001753686.2:n.2021del
NM_000527.5:c.2044del MANE Select NP_000518.1:p.Leu682SerfsTer27
NM_001195798.2:c.2044del NP_001182727.1:p.Leu682SerfsTer27
NM_001195799.2:c.1921del NP_001182728.1:p.Leu641SerfsTer27
NM_001195800.2:c.1540del NP_001182729.1:p.Leu514SerfsTer27
NM_001195803.2:c.1606+193del NP_001182732.1:n.1606+193del