Canonical Allele Identifier: CA2322775644
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120493_11120494delinsTG , CM000681.2:g.11120493_11120494delinsTG GRCh38
NC_000019.9:g.11231169_11231170delinsTG , CM000681.1:g.11231169_11231170delinsTG GRCh37
NC_000019.8:g.11092169_11092170delinsTG NCBI36
NG_009060.1:g.36113_36114delinsTG , LRG_274:g.36113_36114delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2369_2370delinsTG ENSP00000252444.6:p.Leu790=
ENST00000559340.2:c.*180_*181delinsTG ENSP00000453696.2:n.*180_*181delinsTG
ENST00000560467.2:c.1991_1992delinsTG ENSP00000453513.2:p.Leu664=
ENST00000558518.6:c.2111_2112delinsTG MANE Select ENSP00000454071.1:p.Leu704=
ENST00000252444.9:c.2365_2366delinsTG
ENST00000455727.6:c.1607_1608delinsTG ENSP00000397829.2:p.Leu536=
ENST00000535915.5:c.1988_1989delinsTG ENSP00000440520.1:p.Leu663=
ENST00000545707.5:c.1606+260_1606+261delinsTG ENSP00000437639.1:n.1606+260_1606+261delinsTG
ENST00000557933.5:c.2111_2112delinsTG ENSP00000453557.1:p.Leu704=
ENST00000558013.5:c.2111_2112delinsTG ENSP00000453346.1:p.Leu704=
ENST00000558518.5:c.2111_2112delinsTG ENSP00000454071.1:p.Leu704=
NM_000527.4:c.2111_2112delinsTG , LRG_274t1:c.2111_2112delinsTG NP_000518.1:p.Leu704=
NM_001195798.1:c.2111_2112delinsTG NP_001182727.1:p.Leu704=
NM_001195799.1:c.1988_1989delinsTG NP_001182728.1:p.Leu663=
NM_001195800.1:c.1607_1608delinsTG NP_001182729.1:p.Leu536=
NM_001195803.1:c.1606+260_1606+261delinsTG NP_001182732.1:n.1606+260_1606+261delinsTG
XM_011528010.1:c.2111_2112delinsTG XP_011526312.1:p.Leu704=
XM_011528011.1:c.1730_1731delinsTG XP_011526313.1:p.Leu577=
XR_244074.2:n.2121_2122delinsTG
XM_011528010.2:c.2111_2112delinsTG XP_011526312.1:p.Leu704=
XR_001753685.2:n.2228_2229delinsTG
XR_001753686.2:n.2088_2089delinsTG
NM_000527.5:c.2111_2112delinsTG MANE Select NP_000518.1:p.Leu704=
NM_001195798.2:c.2111_2112delinsTG NP_001182727.1:p.Leu704=
NM_001195799.2:c.1988_1989delinsTG NP_001182728.1:p.Leu663=
NM_001195800.2:c.1607_1608delinsTG NP_001182729.1:p.Leu536=
NM_001195803.2:c.1606+260_1606+261delinsTG NP_001182732.1:n.1606+260_1606+261delinsTG