Canonical Allele Identifier: CA2322775424
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120204_11120205delinsTT , CM000681.2:g.11120204_11120205delinsTT GRCh38
NC_000019.9:g.11230880_11230881delinsTT , CM000681.1:g.11230880_11230881delinsTT GRCh37
NC_000019.8:g.11091880_11091881delinsTT NCBI36
NG_009060.1:g.35824_35825delinsTT , LRG_274:g.35824_35825delinsTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2216_2217delinsTT ENSP00000252444.6:p.Val739=
ENST00000559340.2:c.*27_*28delinsTT ENSP00000453696.2:n.*27_*28delinsTT
ENST00000560467.2:c.1838_1839delinsTT ENSP00000453513.2:p.Val613=
ENST00000558518.6:c.1958_1959delinsTT MANE Select ENSP00000454071.1:p.Val653=
ENST00000252444.9:c.2212_2213delinsTT
ENST00000455727.6:c.1454_1455delinsTT ENSP00000397829.2:p.Val485=
ENST00000535915.5:c.1835_1836delinsTT ENSP00000440520.1:p.Val612=
ENST00000545707.5:c.1577_1578delinsTT ENSP00000437639.1:p.Val526=
ENST00000557933.5:c.1958_1959delinsTT ENSP00000453557.1:p.Val653=
ENST00000558013.5:c.1958_1959delinsTT ENSP00000453346.1:p.Val653=
ENST00000558518.5:c.1958_1959delinsTT ENSP00000454071.1:p.Val653=
ENST00000559340.1:c.539_540delinsTT
NM_000527.4:c.1958_1959delinsTT , LRG_274t1:c.1958_1959delinsTT NP_000518.1:p.Val653=
NM_001195798.1:c.1958_1959delinsTT NP_001182727.1:p.Val653=
NM_001195799.1:c.1835_1836delinsTT NP_001182728.1:p.Val612=
NM_001195800.1:c.1454_1455delinsTT NP_001182729.1:p.Val485=
NM_001195803.1:c.1577_1578delinsTT NP_001182732.1:p.Val526=
XM_011528010.1:c.1958_1959delinsTT XP_011526312.1:p.Val653=
XM_011528011.1:c.1577_1578delinsTT XP_011526313.1:p.Val526=
XR_244074.2:n.1968_1969delinsTT
XM_011528010.2:c.1958_1959delinsTT XP_011526312.1:p.Val653=
XR_001753685.2:n.2075_2076delinsTT
XR_001753686.2:n.1935_1936delinsTT
NM_000527.5:c.1958_1959delinsTT MANE Select NP_000518.1:p.Val653=
NM_001195798.2:c.1958_1959delinsTT NP_001182727.1:p.Val653=
NM_001195799.2:c.1835_1836delinsTT NP_001182728.1:p.Val612=
NM_001195800.2:c.1454_1455delinsTT NP_001182729.1:p.Val485=
NM_001195803.2:c.1577_1578delinsTT NP_001182732.1:p.Val526=