Canonical Allele Identifier: CA2582474183
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11110616_11110644del , CM000681.2:g.11110616_11110644del GRCh38
NC_000019.9:g.11221292_11221320del , CM000681.1:g.11221292_11221320del GRCh37
NC_000019.8:g.11082292_11082320del NCBI36
NG_009060.1:g.26236_26264del , LRG_274:g.26236_26264del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1199-36_1199-8del ENSP00000252444.6:n.1199-36_1199-8del
ENST00000559340.2:c.941-36_941-8del ENSP00000453696.2:n.941-36_941-8del
ENST00000560467.2:c.941-898_941-870del ENSP00000453513.2:n.941-898_941-870del
ENST00000558518.6:c.941-36_941-8del MANE Select ENSP00000454071.1:n.941-36_941-8del
ENST00000252444.9:c.1195-36_1195-8del
ENST00000455727.6:c.437-36_437-8del ENSP00000397829.2:n.437-36_437-8del
ENST00000535915.5:c.818-36_818-8del ENSP00000440520.1:n.818-36_818-8del
ENST00000545707.5:c.560-36_560-8del ENSP00000437639.1:n.560-36_560-8del
ENST00000557933.5:c.941-36_941-8del ENSP00000453557.1:n.941-36_941-8del
ENST00000558013.5:c.941-36_941-8del ENSP00000453346.1:n.941-36_941-8del
ENST00000558518.5:c.941-36_941-8del ENSP00000454071.1:n.941-36_941-8del
ENST00000560467.1:c.541-898_541-870del
NM_000527.4:c.941-36_941-8del , LRG_274t1:c.941-36_941-8del NP_000518.1:n.941-36_941-8del
NM_001195798.1:c.941-36_941-8del NP_001182727.1:n.941-36_941-8del
NM_001195799.1:c.818-36_818-8del NP_001182728.1:n.818-36_818-8del
NM_001195800.1:c.437-36_437-8del NP_001182729.1:n.437-36_437-8del
NM_001195803.1:c.560-36_560-8del NP_001182732.1:n.560-36_560-8del
XM_011528010.1:c.941-36_941-8del XP_011526312.1:n.941-36_941-8del
XM_011528011.1:c.560-36_560-8del XP_011526313.1:n.560-36_560-8del
XR_244074.2:n.1091-36_1091-8del
XM_011528010.2:c.941-36_941-8del XP_011526312.1:n.941-36_941-8del
XR_001753685.2:n.1058-36_1058-8del
XR_001753686.2:n.1058-36_1058-8del
NM_000527.5:c.941-36_941-8del MANE Select NP_000518.1:n.941-36_941-8del
NM_001195798.2:c.941-36_941-8del NP_001182727.1:n.941-36_941-8del
NM_001195799.2:c.818-36_818-8del NP_001182728.1:n.818-36_818-8del
NM_001195800.2:c.437-36_437-8del NP_001182729.1:n.437-36_437-8del
NM_001195803.2:c.560-36_560-8del NP_001182732.1:n.560-36_560-8del