Canonical Allele Identifier: CA2695223187
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11102783_11102785del , CM000681.2:g.11102783_11102785del GRCh38
NC_000019.9:g.11213459_11213461del , CM000681.1:g.11213459_11213461del GRCh37
NC_000019.8:g.11074459_11074461del NCBI36
NG_009060.1:g.18403_18405del , LRG_274:g.18403_18405del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.568_570del ENSP00000252444.6:p.Cys190del
ENST00000559340.2:c.310_312del ENSP00000453696.2:p.Cys104del
ENST00000560467.2:c.310_312del ENSP00000453513.2:p.Cys104del
ENST00000558518.6:c.310_312del MANE Select ENSP00000454071.1:p.Cys104del
ENST00000252444.9:c.564_566del
ENST00000455727.6:c.310_312del ENSP00000397829.2:p.Cys104del
ENST00000535915.5:c.191-2437_191-2435del ENSP00000440520.1:n.191-2437_191-2435del
ENST00000545707.5:c.310_312del ENSP00000437639.1:p.Cys104del
ENST00000557933.5:c.310_312del ENSP00000453557.1:p.Cys104del
ENST00000557958.1:n.396_398del
ENST00000558013.5:c.310_312del ENSP00000453346.1:p.Cys104del
ENST00000558518.5:c.310_312del ENSP00000454071.1:p.Cys104del
NM_000527.4:c.310_312del , LRG_274t1:c.310_312del NP_000518.1:p.Cys104del
NM_001195798.1:c.310_312del NP_001182727.1:p.Cys104del
NM_001195799.1:c.191-2437_191-2435del NP_001182728.1:n.191-2437_191-2435del
NM_001195800.1:c.310_312del NP_001182729.1:p.Cys104del
NM_001195803.1:c.310_312del NP_001182732.1:p.Cys104del
XM_011528010.1:c.310_312del XP_011526312.1:p.Cys104del
XM_011528011.1:c.310_312del XP_011526313.1:p.Cys104del
XR_244074.2:n.460_462del
XM_011528010.2:c.310_312del XP_011526312.1:p.Cys104del
XR_001753685.2:n.427_429del
XR_001753686.2:n.427_429del
NM_000527.5:c.310_312del MANE Select NP_000518.1:p.Cys104del
NM_001195798.2:c.310_312del NP_001182727.1:p.Cys104del
NM_001195799.2:c.191-2437_191-2435del NP_001182728.1:n.191-2437_191-2435del
NM_001195800.2:c.310_312del NP_001182729.1:p.Cys104del
NM_001195803.2:c.310_312del NP_001182732.1:p.Cys104del