Canonical Allele Identifier: CA2322773716
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11116941_11116942delinsGA , CM000681.2:g.11116941_11116942delinsGA GRCh38
NC_000019.9:g.11227617_11227618delinsGA , CM000681.1:g.11227617_11227618delinsGA GRCh37
NC_000019.8:g.11088617_11088618delinsGA NCBI36
NG_009060.1:g.32561_32562delinsGA , LRG_274:g.32561_32562delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2046_2047delinsGA ENSP00000252444.6:p.Lys682=
ENST00000559340.2:c.1705+729_1705+730delinsGA ENSP00000453696.2:n.1705+729_1705+730delinsGA
ENST00000560467.2:c.1668_1669delinsGA ENSP00000453513.2:p.Lys556=
ENST00000558518.6:c.1788_1789delinsGA MANE Select ENSP00000454071.1:p.Lys596=
ENST00000252444.9:c.2042_2043delinsGA
ENST00000455727.6:c.1284_1285delinsGA ENSP00000397829.2:p.Lys428=
ENST00000535915.5:c.1665_1666delinsGA ENSP00000440520.1:p.Lys555=
ENST00000545707.5:c.1407_1408delinsGA ENSP00000437639.1:p.Lys469=
ENST00000557933.5:c.1788_1789delinsGA ENSP00000453557.1:p.Lys596=
ENST00000558013.5:c.1788_1789delinsGA ENSP00000453346.1:p.Lys596=
ENST00000558518.5:c.1788_1789delinsGA ENSP00000454071.1:p.Lys596=
ENST00000559340.1:c.426+729_426+730delinsGA
NM_000527.4:c.1788_1789delinsGA , LRG_274t1:c.1788_1789delinsGA NP_000518.1:p.Lys596=
NM_001195798.1:c.1788_1789delinsGA NP_001182727.1:p.Lys596=
NM_001195799.1:c.1665_1666delinsGA NP_001182728.1:p.Lys555=
NM_001195800.1:c.1284_1285delinsGA NP_001182729.1:p.Lys428=
NM_001195803.1:c.1407_1408delinsGA NP_001182732.1:p.Lys469=
XM_011528010.1:c.1788_1789delinsGA XP_011526312.1:p.Lys596=
XM_011528011.1:c.1407_1408delinsGA XP_011526313.1:p.Lys469=
XR_244074.2:n.1855+729_1855+730delinsGA
XM_011528010.2:c.1788_1789delinsGA XP_011526312.1:p.Lys596=
XR_001753685.2:n.1905_1906delinsGA
XR_001753686.2:n.1822+729_1822+730delinsGA
NM_000527.5:c.1788_1789delinsGA MANE Select NP_000518.1:p.Lys596=
NM_001195798.2:c.1788_1789delinsGA NP_001182727.1:p.Lys596=
NM_001195799.2:c.1665_1666delinsGA NP_001182728.1:p.Lys555=
NM_001195800.2:c.1284_1285delinsGA NP_001182729.1:p.Lys428=
NM_001195803.2:c.1407_1408delinsGA NP_001182732.1:p.Lys469=