Canonical Allele Identifier: CA2695228139
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11110718_11110721del , CM000681.2:g.11110718_11110721del GRCh38
NC_000019.9:g.11221394_11221397del , CM000681.1:g.11221394_11221397del GRCh37
NC_000019.8:g.11082394_11082397del NCBI36
NG_009060.1:g.26338_26341del , LRG_274:g.26338_26341del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1265_1268del ENSP00000252444.6:p.Tyr422CysfsTer?
ENST00000559340.2:c.1007_1010del ENSP00000453696.2:p.Tyr336CysfsTer?
ENST00000560467.2:c.941-796_941-793del ENSP00000453513.2:n.941-796_941-793del
ENST00000558518.6:c.1007_1010del MANE Select ENSP00000454071.1:p.Tyr336CysfsTer?
ENST00000252444.9:c.1261_1264del
ENST00000455727.6:c.503_506del ENSP00000397829.2:p.Tyr168CysfsTer?
ENST00000535915.5:c.884_887del ENSP00000440520.1:p.Tyr295CysfsTer?
ENST00000545707.5:c.626_629del ENSP00000437639.1:p.Tyr209CysfsTer?
ENST00000557933.5:c.1007_1010del ENSP00000453557.1:p.Tyr336CysfsTer?
ENST00000558013.5:c.1007_1010del ENSP00000453346.1:p.Tyr336CysfsTer?
ENST00000558518.5:c.1007_1010del ENSP00000454071.1:p.Tyr336CysfsTer?
ENST00000560173.1:n.6_9del
ENST00000560467.1:c.541-796_541-793del
NM_000527.4:c.1007_1010del , LRG_274t1:c.1007_1010del NP_000518.1:p.Tyr336CysfsTer?
NM_001195798.1:c.1007_1010del NP_001182727.1:p.Tyr336CysfsTer?
NM_001195799.1:c.884_887del NP_001182728.1:p.Tyr295CysfsTer?
NM_001195800.1:c.503_506del NP_001182729.1:p.Tyr168CysfsTer?
NM_001195803.1:c.626_629del NP_001182732.1:p.Tyr209CysfsTer?
XM_011528010.1:c.1007_1010del XP_011526312.1:p.Tyr336CysfsTer?
XM_011528011.1:c.626_629del XP_011526313.1:p.Tyr209CysfsTer?
XR_244074.2:n.1157_1160del
XM_011528010.2:c.1007_1010del XP_011526312.1:p.Tyr336CysfsTer?
XR_001753685.2:n.1124_1127del
XR_001753686.2:n.1124_1127del
NM_000527.5:c.1007_1010del MANE Select NP_000518.1:p.Tyr336CysfsTer?
NM_001195798.2:c.1007_1010del NP_001182727.1:p.Tyr336CysfsTer?
NM_001195799.2:c.884_887del NP_001182728.1:p.Tyr295CysfsTer?
NM_001195800.2:c.503_506del NP_001182729.1:p.Tyr168CysfsTer?
NM_001195803.2:c.626_629del NP_001182732.1:p.Tyr209CysfsTer?