Canonical Allele Identifier: CA1139532994
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11089492_11089671del , CM000681.2:g.11089492_11089671del GRCh38
NC_000019.9:g.11200168_11200347del , CM000681.1:g.11200168_11200347del GRCh37
NC_000019.8:g.11061168_11061347del NCBI36
NG_009060.1:g.5112_5291del , LRG_274:g.5112_5291del

Transcript Alleles

HGVS Amino-acid Change
ENST00000559340.2:c.-57_67+56del
ENST00000560467.2:c.-57_67+56del
ENST00000558518.6:c.-57_67+56del
ENST00000455727.6:c.-57_67+56del
ENST00000535915.5:c.-57_67+56del
ENST00000545707.5:c.-57_67+56del
ENST00000557933.5:c.-57_67+56del
ENST00000557958.1:n.30_153+56del
ENST00000558013.5:c.-57_67+56del
ENST00000558518.5:c.-57_67+56del
ENST00000560502.5:n.30_153+56del
NM_000527.4:c.-57_67+56del , LRG_274t1:c.-57_67+56del
NM_001195798.1:c.-57_67+56del
NM_001195799.1:c.-57_67+56del
NM_001195800.1:c.-57_67+56del
NM_001195803.1:c.-57_67+56del
XM_011528010.1:c.-57_67+56del
XM_011528011.1:c.-57_67+56del
XR_244074.2:n.94_217+56del
XM_011528010.2:c.-57_67+56del
XR_001753685.2:n.61_184+56del
XR_001753686.2:n.61_184+56del
NM_000527.5:c.-57_67+56del
NM_001195798.2:c.-57_67+56del
NM_001195799.2:c.-57_67+56del
NM_001195800.2:c.-57_67+56del
NM_001195803.2:c.-57_67+56del