Canonical Allele Identifier: CA2695228128
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11107492_11107493delinsCC , CM000681.2:g.11107492_11107493delinsCC GRCh38
NC_000019.9:g.11218168_11218169delinsCC , CM000681.1:g.11218168_11218169delinsCC GRCh37
NC_000019.8:g.11079168_11079169delinsCC NCBI36
NG_009060.1:g.23112_23113delinsCC , LRG_274:g.23112_23113delinsCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1176_1177delinsCC ENSP00000252444.6:p.Asp393His
ENST00000559340.2:c.918_919delinsCC ENSP00000453696.2:p.Asp307His
ENST00000560467.2:c.918_919delinsCC ENSP00000453513.2:p.Asp307His
ENST00000558518.6:c.918_919delinsCC MANE Select ENSP00000454071.1:p.Asp307His
ENST00000252444.9:c.1172_1173delinsCC
ENST00000455727.6:c.414_415delinsCC ENSP00000397829.2:p.Asp139His
ENST00000535915.5:c.795_796delinsCC ENSP00000440520.1:p.Asp266His
ENST00000545707.5:c.537_538delinsCC ENSP00000437639.1:p.Asp180His
ENST00000557933.5:c.918_919delinsCC ENSP00000453557.1:p.Asp307His
ENST00000558013.5:c.918_919delinsCC ENSP00000453346.1:p.Asp307His
ENST00000558518.5:c.918_919delinsCC ENSP00000454071.1:p.Asp307His
ENST00000558528.1:n.433_434delinsCC
ENST00000560467.1:c.518_519delinsCC
NM_000527.4:c.918_919delinsCC , LRG_274t1:c.918_919delinsCC NP_000518.1:p.Asp307His
NM_001195798.1:c.918_919delinsCC NP_001182727.1:p.Asp307His
NM_001195799.1:c.795_796delinsCC NP_001182728.1:p.Asp266His
NM_001195800.1:c.414_415delinsCC NP_001182729.1:p.Asp139His
NM_001195803.1:c.537_538delinsCC NP_001182732.1:p.Asp180His
XM_011528010.1:c.918_919delinsCC XP_011526312.1:p.Asp307His
XM_011528011.1:c.537_538delinsCC XP_011526313.1:p.Asp180His
XR_244074.2:n.1068_1069delinsCC
XM_011528010.2:c.918_919delinsCC XP_011526312.1:p.Asp307His
XR_001753685.2:n.1035_1036delinsCC
XR_001753686.2:n.1035_1036delinsCC
NM_000527.5:c.918_919delinsCC MANE Select NP_000518.1:p.Asp307His
NM_001195798.2:c.918_919delinsCC NP_001182727.1:p.Asp307His
NM_001195799.2:c.795_796delinsCC NP_001182728.1:p.Asp266His
NM_001195800.2:c.414_415delinsCC NP_001182729.1:p.Asp139His
NM_001195803.2:c.537_538delinsCC NP_001182732.1:p.Asp180His