Canonical Allele Identifier: CA2322766019
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11102721_11102722delinsTT , CM000681.2:g.11102721_11102722delinsTT GRCh38
NC_000019.9:g.11213397_11213398delinsTT , CM000681.1:g.11213397_11213398delinsTT GRCh37
NC_000019.8:g.11074397_11074398delinsTT NCBI36
NG_009060.1:g.18341_18342delinsTT , LRG_274:g.18341_18342delinsTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.506_507delinsTT ENSP00000252444.6:p.Ile169=
ENST00000559340.2:c.248_249delinsTT ENSP00000453696.2:p.Ile83=
ENST00000560467.2:c.248_249delinsTT ENSP00000453513.2:p.Ile83=
ENST00000558518.6:c.248_249delinsTT MANE Select ENSP00000454071.1:p.Ile83=
ENST00000252444.9:c.502_503delinsTT
ENST00000455727.6:c.248_249delinsTT ENSP00000397829.2:p.Ile83=
ENST00000535915.5:c.190+2376_190+2377delinsTT ENSP00000440520.1:n.190+2376_190+2377delinsTT
ENST00000545707.5:c.248_249delinsTT ENSP00000437639.1:p.Ile83=
ENST00000557933.5:c.248_249delinsTT ENSP00000453557.1:p.Ile83=
ENST00000557958.1:n.334_335delinsTT
ENST00000558013.5:c.248_249delinsTT ENSP00000453346.1:p.Ile83=
ENST00000558518.5:c.248_249delinsTT ENSP00000454071.1:p.Ile83=
NM_000527.4:c.248_249delinsTT , LRG_274t1:c.248_249delinsTT NP_000518.1:p.Ile83=
NM_001195798.1:c.248_249delinsTT NP_001182727.1:p.Ile83=
NM_001195799.1:c.190+2376_190+2377delinsTT NP_001182728.1:n.190+2376_190+2377delinsTT
NM_001195800.1:c.248_249delinsTT NP_001182729.1:p.Ile83=
NM_001195803.1:c.248_249delinsTT NP_001182732.1:p.Ile83=
XM_011528010.1:c.248_249delinsTT XP_011526312.1:p.Ile83=
XM_011528011.1:c.248_249delinsTT XP_011526313.1:p.Ile83=
XR_244074.2:n.398_399delinsTT
XM_011528010.2:c.248_249delinsTT XP_011526312.1:p.Ile83=
XR_001753685.2:n.365_366delinsTT
XR_001753686.2:n.365_366delinsTT
NM_000527.5:c.248_249delinsTT MANE Select NP_000518.1:p.Ile83=
NM_001195798.2:c.248_249delinsTT NP_001182727.1:p.Ile83=
NM_001195799.2:c.190+2376_190+2377delinsTT NP_001182728.1:n.190+2376_190+2377delinsTT
NM_001195800.2:c.248_249delinsTT NP_001182729.1:p.Ile83=
NM_001195803.2:c.248_249delinsTT NP_001182732.1:p.Ile83=