Canonical Allele Identifier: CA2497030106
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11123344_11123359del , CM000681.2:g.11123344_11123359del GRCh38
NC_000019.9:g.11234020_11234035del , CM000681.1:g.11234020_11234035del GRCh37
NC_000019.8:g.11095020_11095035del NCBI36
NG_009060.1:g.38964_38979del , LRG_274:g.38964_38979del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2569_2569+15del
ENST00000559340.2:c.*380_*380+15del
ENST00000560467.2:c.2191_2191+15del
ENST00000558518.6:c.2311_2311+15del
ENST00000252444.9:c.2565_2565+15del
ENST00000455727.6:c.1807_1807+15del
ENST00000535915.5:c.2188_2188+15del
ENST00000545707.5:c.1777_1777+15del
ENST00000557933.5:c.2311_2311+15del
ENST00000558013.5:c.2311_2311+15del
ENST00000558518.5:c.2311_2311+15del
NM_000527.4:c.2311_2311+15del , LRG_274t1:c.2311_2311+15del
NM_001195798.1:c.2311_2311+15del
NM_001195799.1:c.2188_2188+15del
NM_001195800.1:c.1807_1807+15del
NM_001195803.1:c.1777_1777+15del
XM_011528010.1:c.2311_2311+15del
XM_011528011.1:c.1930_1930+15del
XR_244074.2:n.2321_2321+15del
XM_011528010.2:c.2311_2311+15del
XR_001753685.2:n.2645_2645+15del
XR_001753686.2:n.2288_2288+15del
NM_000527.5:c.2311_2311+15del
NM_001195798.2:c.2311_2311+15del
NM_001195799.2:c.2188_2188+15del
NM_001195800.2:c.1807_1807+15del
NM_001195803.2:c.1777_1777+15del