Canonical Allele Identifier: CA2582474648
Gene: LDLR HGNC NCBI

Linked Data

gnomAD v4: 19-11113772-CACG-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113776_11113778del , CM000681.2:g.11113776_11113778del GRCh38
NC_000019.9:g.11224452_11224454del , CM000681.1:g.11224452_11224454del GRCh37
NC_000019.8:g.11085452_11085454del NCBI36
NG_009060.1:g.29396_29398del , LRG_274:g.29396_29398del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1844+14_1844+16del ENSP00000252444.6:n.1844+14_1844+16del
ENST00000559340.2:c.1586+14_1586+16del ENSP00000453696.2:n.1586+14_1586+16del
ENST00000560467.2:c.1466+14_1466+16del ENSP00000453513.2:n.1466+14_1466+16del
ENST00000558518.6:c.1586+14_1586+16del MANE Select ENSP00000454071.1:n.1586+14_1586+16del
ENST00000252444.9:c.1840+14_1840+16del
ENST00000455727.6:c.1082+14_1082+16del ENSP00000397829.2:n.1082+14_1082+16del
ENST00000535915.5:c.1463+14_1463+16del ENSP00000440520.1:n.1463+14_1463+16del
ENST00000545707.5:c.1205+14_1205+16del ENSP00000437639.1:n.1205+14_1205+16del
ENST00000557933.5:c.1586+14_1586+16del ENSP00000453557.1:n.1586+14_1586+16del
ENST00000558013.5:c.1586+14_1586+16del ENSP00000453346.1:n.1586+14_1586+16del
ENST00000558518.5:c.1586+14_1586+16del ENSP00000454071.1:n.1586+14_1586+16del
ENST00000559340.1:c.307+14_307+16del
NM_000527.4:c.1586+14_1586+16del , LRG_274t1:c.1586+14_1586+16del NP_000518.1:n.1586+14_1586+16del
NM_001195798.1:c.1586+14_1586+16del NP_001182727.1:n.1586+14_1586+16del
NM_001195799.1:c.1463+14_1463+16del NP_001182728.1:n.1463+14_1463+16del
NM_001195800.1:c.1082+14_1082+16del NP_001182729.1:n.1082+14_1082+16del
NM_001195803.1:c.1205+14_1205+16del NP_001182732.1:n.1205+14_1205+16del
XM_011528010.1:c.1586+14_1586+16del XP_011526312.1:n.1586+14_1586+16del
XM_011528011.1:c.1205+14_1205+16del XP_011526313.1:n.1205+14_1205+16del
XR_244074.2:n.1736+14_1736+16del
XM_011528010.2:c.1586+14_1586+16del XP_011526312.1:n.1586+14_1586+16del
XR_001753685.2:n.1703+14_1703+16del
XR_001753686.2:n.1703+14_1703+16del
NM_000527.5:c.1586+14_1586+16del MANE Select NP_000518.1:n.1586+14_1586+16del
NM_001195798.2:c.1586+14_1586+16del NP_001182727.1:n.1586+14_1586+16del
NM_001195799.2:c.1463+14_1463+16del NP_001182728.1:n.1463+14_1463+16del
NM_001195800.2:c.1082+14_1082+16del NP_001182729.1:n.1082+14_1082+16del
NM_001195803.2:c.1205+14_1205+16del NP_001182732.1:n.1205+14_1205+16del
Search 100 bp 5'
Search 100 bp 3'