Canonical Allele Identifier: CA2322767509
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105486_11105487delinsAG , CM000681.2:g.11105486_11105487delinsAG GRCh38
NC_000019.9:g.11216162_11216163delinsAG , CM000681.1:g.11216162_11216163delinsAG GRCh37
NC_000019.8:g.11077162_11077163delinsAG NCBI36
NG_009060.1:g.21106_21107delinsAG , LRG_274:g.21106_21107delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.838_839delinsAG ENSP00000252444.6:p.Ser280=
ENST00000559340.2:c.580_581delinsAG ENSP00000453696.2:p.Ser194=
ENST00000560467.2:c.580_581delinsAG ENSP00000453513.2:p.Ser194=
ENST00000558518.6:c.580_581delinsAG MANE Select ENSP00000454071.1:p.Ser194=
ENST00000252444.9:c.834_835delinsAG
ENST00000455727.6:c.314-1906_314-1905delinsAG ENSP00000397829.2:n.314-1906_314-1905delinsAG
ENST00000535915.5:c.457_458delinsAG ENSP00000440520.1:p.Ser153=
ENST00000545707.5:c.314-1079_314-1078delinsAG ENSP00000437639.1:n.314-1079_314-1078delinsAG
ENST00000557933.5:c.580_581delinsAG ENSP00000453557.1:p.Ser194=
ENST00000558013.5:c.580_581delinsAG ENSP00000453346.1:p.Ser194=
ENST00000558518.5:c.580_581delinsAG ENSP00000454071.1:p.Ser194=
ENST00000560467.1:c.180_181delinsAG
NM_000527.4:c.580_581delinsAG , LRG_274t1:c.580_581delinsAG NP_000518.1:p.Ser194=
NM_001195798.1:c.580_581delinsAG NP_001182727.1:p.Ser194=
NM_001195799.1:c.457_458delinsAG NP_001182728.1:p.Ser153=
NM_001195800.1:c.314-1906_314-1905delinsAG NP_001182729.1:n.314-1906_314-1905delinsAG
NM_001195803.1:c.314-1079_314-1078delinsAG NP_001182732.1:n.314-1079_314-1078delinsAG
XM_011528010.1:c.580_581delinsAG XP_011526312.1:p.Ser194=
XM_011528011.1:c.314-1079_314-1078delinsAG XP_011526313.1:n.314-1079_314-1078delinsAG
XR_244074.2:n.730_731delinsAG
XM_011528010.2:c.580_581delinsAG XP_011526312.1:p.Ser194=
XR_001753685.2:n.697_698delinsAG
XR_001753686.2:n.697_698delinsAG
NM_000527.5:c.580_581delinsAG MANE Select NP_000518.1:p.Ser194=
NM_001195798.2:c.580_581delinsAG NP_001182727.1:p.Ser194=
NM_001195799.2:c.457_458delinsAG NP_001182728.1:p.Ser153=
NM_001195800.2:c.314-1906_314-1905delinsAG NP_001182729.1:n.314-1906_314-1905delinsAG
NM_001195803.2:c.314-1079_314-1078delinsAG NP_001182732.1:n.314-1079_314-1078delinsAG