Canonical Allele Identifier: CA2322772011
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113697_11113698delinsGA , CM000681.2:g.11113697_11113698delinsGA GRCh38
NC_000019.9:g.11224373_11224374delinsGA , CM000681.1:g.11224373_11224374delinsGA GRCh37
NC_000019.8:g.11085373_11085374delinsGA NCBI36
NG_009060.1:g.29317_29318delinsGA , LRG_274:g.29317_29318delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1779_1780delinsGA ENSP00000252444.6:p.Lys593=
ENST00000559340.2:c.1521_1522delinsGA ENSP00000453696.2:p.Lys507=
ENST00000560467.2:c.1401_1402delinsGA ENSP00000453513.2:p.Lys467=
ENST00000558518.6:c.1521_1522delinsGA MANE Select ENSP00000454071.1:p.Lys507=
ENST00000252444.9:c.1775_1776delinsGA
ENST00000455727.6:c.1017_1018delinsGA ENSP00000397829.2:p.Lys339=
ENST00000535915.5:c.1398_1399delinsGA ENSP00000440520.1:p.Lys466=
ENST00000545707.5:c.1140_1141delinsGA ENSP00000437639.1:p.Lys380=
ENST00000557933.5:c.1521_1522delinsGA ENSP00000453557.1:p.Lys507=
ENST00000558013.5:c.1521_1522delinsGA ENSP00000453346.1:p.Lys507=
ENST00000558518.5:c.1521_1522delinsGA ENSP00000454071.1:p.Lys507=
ENST00000559340.1:c.242_243delinsGA
NM_000527.4:c.1521_1522delinsGA , LRG_274t1:c.1521_1522delinsGA NP_000518.1:p.Lys507=
NM_001195798.1:c.1521_1522delinsGA NP_001182727.1:p.Lys507=
NM_001195799.1:c.1398_1399delinsGA NP_001182728.1:p.Lys466=
NM_001195800.1:c.1017_1018delinsGA NP_001182729.1:p.Lys339=
NM_001195803.1:c.1140_1141delinsGA NP_001182732.1:p.Lys380=
XM_011528010.1:c.1521_1522delinsGA XP_011526312.1:p.Lys507=
XM_011528011.1:c.1140_1141delinsGA XP_011526313.1:p.Lys380=
XR_244074.2:n.1671_1672delinsGA
XM_011528010.2:c.1521_1522delinsGA XP_011526312.1:p.Lys507=
XR_001753685.2:n.1638_1639delinsGA
XR_001753686.2:n.1638_1639delinsGA
NM_000527.5:c.1521_1522delinsGA MANE Select NP_000518.1:p.Lys507=
NM_001195798.2:c.1521_1522delinsGA NP_001182727.1:p.Lys507=
NM_001195799.2:c.1398_1399delinsGA NP_001182728.1:p.Lys466=
NM_001195800.2:c.1017_1018delinsGA NP_001182729.1:p.Lys339=
NM_001195803.2:c.1140_1141delinsGA NP_001182732.1:p.Lys380=