Canonical Allele Identifier: CA2573320458
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11111628_11111651del , CM000681.2:g.11111628_11111651del GRCh38
NC_000019.9:g.11222304_11222327del , CM000681.1:g.11222304_11222327del GRCh37
NC_000019.8:g.11083304_11083327del NCBI36
NG_009060.1:g.27248_27271del , LRG_274:g.27248_27271del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1433_1444+12del
ENST00000559340.2:c.1175_1186+12del
ENST00000560467.2:c.1055_1066+12del
ENST00000558518.6:c.1175_1186+12del
ENST00000252444.9:c.1429_1440+12del
ENST00000455727.6:c.671_682+12del
ENST00000535915.5:c.1052_1063+12del
ENST00000545707.5:c.794_805+12del
ENST00000557933.5:c.1175_1186+12del
ENST00000558013.5:c.1175_1186+12del
ENST00000558518.5:c.1175_1186+12del
ENST00000560173.1:n.174_185+12del
ENST00000560467.1:c.655_666+12del
NM_000527.4:c.1175_1186+12del , LRG_274t1:c.1175_1186+12del
NM_001195798.1:c.1175_1186+12del
NM_001195799.1:c.1052_1063+12del
NM_001195800.1:c.671_682+12del
NM_001195803.1:c.794_805+12del
XM_011528010.1:c.1175_1186+12del
XM_011528011.1:c.794_805+12del
XR_244074.2:n.1325_1336+12del
XM_011528010.2:c.1175_1186+12del
XR_001753685.2:n.1292_1303+12del
XR_001753686.2:n.1292_1303+12del
NM_000527.5:c.1175_1186+12del
NM_001195798.2:c.1175_1186+12del
NM_001195799.2:c.1052_1063+12del
NM_001195800.2:c.671_682+12del
NM_001195803.2:c.794_805+12del