Canonical Allele Identifier: CA2322767505
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105483_11105484delinsGA , CM000681.2:g.11105483_11105484delinsGA GRCh38
NC_000019.9:g.11216159_11216160delinsGA , CM000681.1:g.11216159_11216160delinsGA GRCh37
NC_000019.8:g.11077159_11077160delinsGA NCBI36
NG_009060.1:g.21103_21104delinsGA , LRG_274:g.21103_21104delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.835_836delinsGA ENSP00000252444.6:p.Asp279=
ENST00000559340.2:c.577_578delinsGA ENSP00000453696.2:p.Asp193=
ENST00000560467.2:c.577_578delinsGA ENSP00000453513.2:p.Asp193=
ENST00000558518.6:c.577_578delinsGA MANE Select ENSP00000454071.1:p.Asp193=
ENST00000252444.9:c.831_832delinsGA
ENST00000455727.6:c.314-1909_314-1908delinsGA ENSP00000397829.2:n.314-1909_314-1908delinsGA
ENST00000535915.5:c.454_455delinsGA ENSP00000440520.1:p.Asp152=
ENST00000545707.5:c.314-1082_314-1081delinsGA ENSP00000437639.1:n.314-1082_314-1081delinsGA
ENST00000557933.5:c.577_578delinsGA ENSP00000453557.1:p.Asp193=
ENST00000558013.5:c.577_578delinsGA ENSP00000453346.1:p.Asp193=
ENST00000558518.5:c.577_578delinsGA ENSP00000454071.1:p.Asp193=
ENST00000560467.1:c.177_178delinsGA
NM_000527.4:c.577_578delinsGA , LRG_274t1:c.577_578delinsGA NP_000518.1:p.Asp193=
NM_001195798.1:c.577_578delinsGA NP_001182727.1:p.Asp193=
NM_001195799.1:c.454_455delinsGA NP_001182728.1:p.Asp152=
NM_001195800.1:c.314-1909_314-1908delinsGA NP_001182729.1:n.314-1909_314-1908delinsGA
NM_001195803.1:c.314-1082_314-1081delinsGA NP_001182732.1:n.314-1082_314-1081delinsGA
XM_011528010.1:c.577_578delinsGA XP_011526312.1:p.Asp193=
XM_011528011.1:c.314-1082_314-1081delinsGA XP_011526313.1:n.314-1082_314-1081delinsGA
XR_244074.2:n.727_728delinsGA
XM_011528010.2:c.577_578delinsGA XP_011526312.1:p.Asp193=
XR_001753685.2:n.694_695delinsGA
XR_001753686.2:n.694_695delinsGA
NM_000527.5:c.577_578delinsGA MANE Select NP_000518.1:p.Asp193=
NM_001195798.2:c.577_578delinsGA NP_001182727.1:p.Asp193=
NM_001195799.2:c.454_455delinsGA NP_001182728.1:p.Asp152=
NM_001195800.2:c.314-1909_314-1908delinsGA NP_001182729.1:n.314-1909_314-1908delinsGA
NM_001195803.2:c.314-1082_314-1081delinsGA NP_001182732.1:n.314-1082_314-1081delinsGA