Canonical Allele Identifier: CA2322767307
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105260_11105261delinsTG , CM000681.2:g.11105260_11105261delinsTG GRCh38
NC_000019.9:g.11215936_11215937delinsTG , CM000681.1:g.11215936_11215937delinsTG GRCh37
NC_000019.8:g.11076936_11076937delinsTG NCBI36
NG_009060.1:g.20880_20881delinsTG , LRG_274:g.20880_20881delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.612_613delinsTG ENSP00000252444.6:p.Asp204=
ENST00000559340.2:c.354_355delinsTG ENSP00000453696.2:p.Asp118=
ENST00000560467.2:c.354_355delinsTG ENSP00000453513.2:p.Asp118=
ENST00000558518.6:c.354_355delinsTG MANE Select ENSP00000454071.1:p.Asp118=
ENST00000252444.9:c.608_609delinsTG
ENST00000455727.6:c.314-2132_314-2131delinsTG ENSP00000397829.2:n.314-2132_314-2131delinsTG
ENST00000535915.5:c.231_232delinsTG ENSP00000440520.1:p.Asp77=
ENST00000545707.5:c.314-1305_314-1304delinsTG ENSP00000437639.1:n.314-1305_314-1304delinsTG
ENST00000557933.5:c.354_355delinsTG ENSP00000453557.1:p.Asp118=
ENST00000558013.5:c.354_355delinsTG ENSP00000453346.1:p.Asp118=
ENST00000558518.5:c.354_355delinsTG ENSP00000454071.1:p.Asp118=
NM_000527.4:c.354_355delinsTG , LRG_274t1:c.354_355delinsTG NP_000518.1:p.Asp118=
NM_001195798.1:c.354_355delinsTG NP_001182727.1:p.Asp118=
NM_001195799.1:c.231_232delinsTG NP_001182728.1:p.Asp77=
NM_001195800.1:c.314-2132_314-2131delinsTG NP_001182729.1:n.314-2132_314-2131delinsTG
NM_001195803.1:c.314-1305_314-1304delinsTG NP_001182732.1:n.314-1305_314-1304delinsTG
XM_011528010.1:c.354_355delinsTG XP_011526312.1:p.Asp118=
XM_011528011.1:c.314-1305_314-1304delinsTG XP_011526313.1:n.314-1305_314-1304delinsTG
XR_244074.2:n.504_505delinsTG
XM_011528010.2:c.354_355delinsTG XP_011526312.1:p.Asp118=
XR_001753685.2:n.471_472delinsTG
XR_001753686.2:n.471_472delinsTG
NM_000527.5:c.354_355delinsTG MANE Select NP_000518.1:p.Asp118=
NM_001195798.2:c.354_355delinsTG NP_001182727.1:p.Asp118=
NM_001195799.2:c.231_232delinsTG NP_001182728.1:p.Asp77=
NM_001195800.2:c.314-2132_314-2131delinsTG NP_001182729.1:n.314-2132_314-2131delinsTG
NM_001195803.2:c.314-1305_314-1304delinsTG NP_001182732.1:n.314-1305_314-1304delinsTG