Canonical Allele Identifier: CA2322768601
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11107445_11107446delinsAC , CM000681.2:g.11107445_11107446delinsAC GRCh38
NC_000019.9:g.11218121_11218122delinsAC , CM000681.1:g.11218121_11218122delinsAC GRCh37
NC_000019.8:g.11079121_11079122delinsAC NCBI36
NG_009060.1:g.23065_23066delinsAC , LRG_274:g.23065_23066delinsAC

Transcript Alleles

HGVS Amino-acid change
ENST00000252444.10:c.1129_1130delinsAC ENSP00000252444.6:p.Thr377=
ENST00000559340.2:c.871_872delinsAC ENSP00000453696.2:p.Thr291=
ENST00000560467.2:c.871_872delinsAC ENSP00000453513.2:p.Thr291=
ENST00000558518.6:c.871_872delinsAC MANE Select ENSP00000454071.1:p.Thr291=
ENST00000252444.9:c.1125_1126delinsAC
ENST00000455727.6:c.367_368delinsAC ENSP00000397829.2:p.Thr123=
ENST00000535915.5:c.748_749delinsAC ENSP00000440520.1:p.Thr250=
ENST00000545707.5:c.490_491delinsAC ENSP00000437639.1:p.Thr164=
ENST00000557933.5:c.871_872delinsAC ENSP00000453557.1:p.Thr291=
ENST00000558013.5:c.871_872delinsAC ENSP00000453346.1:p.Thr291=
ENST00000558518.5:c.871_872delinsAC ENSP00000454071.1:p.Thr291=
ENST00000558528.1:n.386_387delinsAC
ENST00000560467.1:c.471_472delinsAC
NM_000527.4:c.871_872delinsAC , LRG_274t1:c.871_872delinsAC NP_000518.1:p.Thr291=
NM_001195798.1:c.871_872delinsAC NP_001182727.1:p.Thr291=
NM_001195799.1:c.748_749delinsAC NP_001182728.1:p.Thr250=
NM_001195800.1:c.367_368delinsAC NP_001182729.1:p.Thr123=
NM_001195803.1:c.490_491delinsAC NP_001182732.1:p.Thr164=
XM_011528010.1:c.871_872delinsAC XP_011526312.1:p.Thr291=
XM_011528011.1:c.490_491delinsAC XP_011526313.1:p.Thr164=
XR_244074.2:n.1021_1022delinsAC
XM_011528010.2:c.871_872delinsAC XP_011526312.1:p.Thr291=
XR_001753685.2:n.988_989delinsAC
XR_001753686.2:n.988_989delinsAC
NM_000527.5:c.871_872delinsAC MANE Select NP_000518.1:p.Thr291=
NM_001195798.2:c.871_872delinsAC NP_001182727.1:p.Thr291=
NM_001195799.2:c.748_749delinsAC NP_001182728.1:p.Thr250=
NM_001195800.2:c.367_368delinsAC NP_001182729.1:p.Thr123=
NM_001195803.2:c.490_491delinsAC NP_001182732.1:p.Thr164=