Canonical Allele Identifier: CA2322770216
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11110658_11110659delinsAC , CM000681.2:g.11110658_11110659delinsAC GRCh38
NC_000019.9:g.11221334_11221335delinsAC , CM000681.1:g.11221334_11221335delinsAC GRCh37
NC_000019.8:g.11082334_11082335delinsAC NCBI36
NG_009060.1:g.26278_26279delinsAC , LRG_274:g.26278_26279delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1205_1206delinsAC ENSP00000252444.6:p.Asn402=
ENST00000559340.2:c.947_948delinsAC ENSP00000453696.2:p.Asn316=
ENST00000560467.2:c.941-856_941-855delinsAC ENSP00000453513.2:n.941-856_941-855delinsAC
ENST00000558518.6:c.947_948delinsAC MANE Select ENSP00000454071.1:p.Asn316=
ENST00000252444.9:c.1201_1202delinsAC
ENST00000455727.6:c.443_444delinsAC ENSP00000397829.2:p.Asn148=
ENST00000535915.5:c.824_825delinsAC ENSP00000440520.1:p.Asn275=
ENST00000545707.5:c.566_567delinsAC ENSP00000437639.1:p.Asn189=
ENST00000557933.5:c.947_948delinsAC ENSP00000453557.1:p.Asn316=
ENST00000558013.5:c.947_948delinsAC ENSP00000453346.1:p.Asn316=
ENST00000558518.5:c.947_948delinsAC ENSP00000454071.1:p.Asn316=
ENST00000560467.1:c.541-856_541-855delinsAC
NM_000527.4:c.947_948delinsAC , LRG_274t1:c.947_948delinsAC NP_000518.1:p.Asn316=
NM_001195798.1:c.947_948delinsAC NP_001182727.1:p.Asn316=
NM_001195799.1:c.824_825delinsAC NP_001182728.1:p.Asn275=
NM_001195800.1:c.443_444delinsAC NP_001182729.1:p.Asn148=
NM_001195803.1:c.566_567delinsAC NP_001182732.1:p.Asn189=
XM_011528010.1:c.947_948delinsAC XP_011526312.1:p.Asn316=
XM_011528011.1:c.566_567delinsAC XP_011526313.1:p.Asn189=
XR_244074.2:n.1097_1098delinsAC
XM_011528010.2:c.947_948delinsAC XP_011526312.1:p.Asn316=
XR_001753685.2:n.1064_1065delinsAC
XR_001753686.2:n.1064_1065delinsAC
NM_000527.5:c.947_948delinsAC MANE Select NP_000518.1:p.Asn316=
NM_001195798.2:c.947_948delinsAC NP_001182727.1:p.Asn316=
NM_001195799.2:c.824_825delinsAC NP_001182728.1:p.Asn275=
NM_001195800.2:c.443_444delinsAC NP_001182729.1:p.Asn148=
NM_001195803.2:c.566_567delinsAC NP_001182732.1:p.Asn189=