Canonical Allele Identifier: CA2322770771
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11111610_11111611delinsAC , CM000681.2:g.11111610_11111611delinsAC GRCh38
NC_000019.9:g.11222286_11222287delinsAC , CM000681.1:g.11222286_11222287delinsAC GRCh37
NC_000019.8:g.11083286_11083287delinsAC NCBI36
NG_009060.1:g.27230_27231delinsAC , LRG_274:g.27230_27231delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1415_1416delinsAC ENSP00000252444.6:p.Asp472=
ENST00000559340.2:c.1157_1158delinsAC ENSP00000453696.2:p.Asp386=
ENST00000560467.2:c.1037_1038delinsAC ENSP00000453513.2:p.Asp346=
ENST00000558518.6:c.1157_1158delinsAC MANE Select ENSP00000454071.1:p.Asp386=
ENST00000252444.9:c.1411_1412delinsAC
ENST00000455727.6:c.653_654delinsAC ENSP00000397829.2:p.Asp218=
ENST00000535915.5:c.1034_1035delinsAC ENSP00000440520.1:p.Asp345=
ENST00000545707.5:c.776_777delinsAC ENSP00000437639.1:p.Asp259=
ENST00000557933.5:c.1157_1158delinsAC ENSP00000453557.1:p.Asp386=
ENST00000558013.5:c.1157_1158delinsAC ENSP00000453346.1:p.Asp386=
ENST00000558518.5:c.1157_1158delinsAC ENSP00000454071.1:p.Asp386=
ENST00000560173.1:n.156_157delinsAC
ENST00000560467.1:c.637_638delinsAC
NM_000527.4:c.1157_1158delinsAC , LRG_274t1:c.1157_1158delinsAC NP_000518.1:p.Asp386=
NM_001195798.1:c.1157_1158delinsAC NP_001182727.1:p.Asp386=
NM_001195799.1:c.1034_1035delinsAC NP_001182728.1:p.Asp345=
NM_001195800.1:c.653_654delinsAC NP_001182729.1:p.Asp218=
NM_001195803.1:c.776_777delinsAC NP_001182732.1:p.Asp259=
XM_011528010.1:c.1157_1158delinsAC XP_011526312.1:p.Asp386=
XM_011528011.1:c.776_777delinsAC XP_011526313.1:p.Asp259=
XR_244074.2:n.1307_1308delinsAC
XM_011528010.2:c.1157_1158delinsAC XP_011526312.1:p.Asp386=
XR_001753685.2:n.1274_1275delinsAC
XR_001753686.2:n.1274_1275delinsAC
NM_000527.5:c.1157_1158delinsAC MANE Select NP_000518.1:p.Asp386=
NM_001195798.2:c.1157_1158delinsAC NP_001182727.1:p.Asp386=
NM_001195799.2:c.1034_1035delinsAC NP_001182728.1:p.Asp345=
NM_001195800.2:c.653_654delinsAC NP_001182729.1:p.Asp218=
NM_001195803.2:c.776_777delinsAC NP_001182732.1:p.Asp259=