Canonical Allele Identifier: CA2582471926
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11100345_11100353del , CM000681.2:g.11100345_11100353del GRCh38
NC_000019.9:g.11211021_11211029del , CM000681.1:g.11211021_11211029del GRCh37
NC_000019.8:g.11072021_11072029del NCBI36
NG_009060.1:g.15965_15973del , LRG_274:g.15965_15973del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.448_448+8del
ENST00000559340.2:c.190_190+8del
ENST00000560467.2:c.190_190+8del
ENST00000558518.6:c.190_190+8del
ENST00000252444.9:c.444_444+8del
ENST00000455727.6:c.190_190+8del
ENST00000535915.5:c.190_190+8del
ENST00000545707.5:c.190_190+8del
ENST00000557933.5:c.190_190+8del
ENST00000557958.1:n.276_276+8del
ENST00000558013.5:c.190_190+8del
ENST00000558518.5:c.190_190+8del
ENST00000560502.5:n.276_284del
NM_000527.4:c.190_190+8del , LRG_274t1:c.190_190+8del
NM_001195798.1:c.190_190+8del
NM_001195799.1:c.190_190+8del
NM_001195800.1:c.190_190+8del
NM_001195803.1:c.190_190+8del
XM_011528010.1:c.190_190+8del
XM_011528011.1:c.190_190+8del
XR_244074.2:n.340_340+8del
XM_011528010.2:c.190_190+8del
XR_001753685.2:n.307_307+8del
XR_001753686.2:n.307_307+8del
NM_000527.5:c.190_190+8del
NM_001195798.2:c.190_190+8del
NM_001195799.2:c.190_190+8del
NM_001195800.2:c.190_190+8del
NM_001195803.2:c.190_190+8del