Canonical Allele Identifier: CA2322767303
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105258_11105259delinsGA , CM000681.2:g.11105258_11105259delinsGA GRCh38
NC_000019.9:g.11215934_11215935delinsGA , CM000681.1:g.11215934_11215935delinsGA GRCh37
NC_000019.8:g.11076934_11076935delinsGA NCBI36
NG_009060.1:g.20878_20879delinsGA , LRG_274:g.20878_20879delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.610_611delinsGA ENSP00000252444.6:p.Asp204=
ENST00000559340.2:c.352_353delinsGA ENSP00000453696.2:p.Asp118=
ENST00000560467.2:c.352_353delinsGA ENSP00000453513.2:p.Asp118=
ENST00000558518.6:c.352_353delinsGA MANE Select ENSP00000454071.1:p.Asp118=
ENST00000252444.9:c.606_607delinsGA
ENST00000455727.6:c.314-2134_314-2133delinsGA ENSP00000397829.2:n.314-2134_314-2133delinsGA
ENST00000535915.5:c.229_230delinsGA ENSP00000440520.1:p.Asp77=
ENST00000545707.5:c.314-1307_314-1306delinsGA ENSP00000437639.1:n.314-1307_314-1306delinsGA
ENST00000557933.5:c.352_353delinsGA ENSP00000453557.1:p.Asp118=
ENST00000558013.5:c.352_353delinsGA ENSP00000453346.1:p.Asp118=
ENST00000558518.5:c.352_353delinsGA ENSP00000454071.1:p.Asp118=
NM_000527.4:c.352_353delinsGA , LRG_274t1:c.352_353delinsGA NP_000518.1:p.Asp118=
NM_001195798.1:c.352_353delinsGA NP_001182727.1:p.Asp118=
NM_001195799.1:c.229_230delinsGA NP_001182728.1:p.Asp77=
NM_001195800.1:c.314-2134_314-2133delinsGA NP_001182729.1:n.314-2134_314-2133delinsGA
NM_001195803.1:c.314-1307_314-1306delinsGA NP_001182732.1:n.314-1307_314-1306delinsGA
XM_011528010.1:c.352_353delinsGA XP_011526312.1:p.Asp118=
XM_011528011.1:c.314-1307_314-1306delinsGA XP_011526313.1:n.314-1307_314-1306delinsGA
XR_244074.2:n.502_503delinsGA
XM_011528010.2:c.352_353delinsGA XP_011526312.1:p.Asp118=
XR_001753685.2:n.469_470delinsGA
XR_001753686.2:n.469_470delinsGA
NM_000527.5:c.352_353delinsGA MANE Select NP_000518.1:p.Asp118=
NM_001195798.2:c.352_353delinsGA NP_001182727.1:p.Asp118=
NM_001195799.2:c.229_230delinsGA NP_001182728.1:p.Asp77=
NM_001195800.2:c.314-2134_314-2133delinsGA NP_001182729.1:n.314-2134_314-2133delinsGA
NM_001195803.2:c.314-1307_314-1306delinsGA NP_001182732.1:n.314-1307_314-1306delinsGA