Canonical Allele Identifier: CA2555874785
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113901_11113902insCAGGG , CM000681.2:g.11113901_11113902insCAGGG GRCh38
NC_000019.9:g.11224577_11224578insCAGGG , CM000681.1:g.11224577_11224578insCAGGG GRCh37
NC_000019.8:g.11085577_11085578insCAGGG NCBI36
NG_009060.1:g.29521_29522insCAGGG , LRG_274:g.29521_29522insCAGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1844+139_1844+140insCAGGG ENSP00000252444.6:n.1844+139_1844+140insCAGGG
ENST00000559340.2:c.1586+139_1586+140insCAGGG ENSP00000453696.2:n.1586+139_1586+140insCAGGG
ENST00000560467.2:c.1466+139_1466+140insCAGGG ENSP00000453513.2:n.1466+139_1466+140insCAGGG
ENST00000558518.6:c.1586+139_1586+140insCAGGG MANE Select ENSP00000454071.1:n.1586+139_1586+140insCAGGG
ENST00000252444.9:c.1840+139_1840+140insCAGGG
ENST00000455727.6:c.1082+139_1082+140insCAGGG ENSP00000397829.2:n.1082+139_1082+140insCAGGG
ENST00000535915.5:c.1463+139_1463+140insCAGGG ENSP00000440520.1:n.1463+139_1463+140insCAGGG
ENST00000545707.5:c.1205+139_1205+140insCAGGG ENSP00000437639.1:n.1205+139_1205+140insCAGGG
ENST00000557933.5:c.1586+139_1586+140insCAGGG ENSP00000453557.1:n.1586+139_1586+140insCAGGG
ENST00000558013.5:c.1586+139_1586+140insCAGGG ENSP00000453346.1:n.1586+139_1586+140insCAGGG
ENST00000558518.5:c.1586+139_1586+140insCAGGG ENSP00000454071.1:n.1586+139_1586+140insCAGGG
ENST00000559340.1:c.307+139_307+140insCAGGG
NM_000527.4:c.1586+139_1586+140insCAGGG , LRG_274t1:c.1586+139_1586+140insCAGGG NP_000518.1:n.1586+139_1586+140insCAGGG
NM_001195798.1:c.1586+139_1586+140insCAGGG NP_001182727.1:n.1586+139_1586+140insCAGGG
NM_001195799.1:c.1463+139_1463+140insCAGGG NP_001182728.1:n.1463+139_1463+140insCAGGG
NM_001195800.1:c.1082+139_1082+140insCAGGG NP_001182729.1:n.1082+139_1082+140insCAGGG
NM_001195803.1:c.1205+139_1205+140insCAGGG NP_001182732.1:n.1205+139_1205+140insCAGGG
XM_011528010.1:c.1586+139_1586+140insCAGGG XP_011526312.1:n.1586+139_1586+140insCAGGG
XM_011528011.1:c.1205+139_1205+140insCAGGG XP_011526313.1:n.1205+139_1205+140insCAGGG
XR_244074.2:n.1736+139_1736+140insCAGGG
XM_011528010.2:c.1586+139_1586+140insCAGGG XP_011526312.1:n.1586+139_1586+140insCAGGG
XR_001753685.2:n.1703+139_1703+140insCAGGG
XR_001753686.2:n.1703+139_1703+140insCAGGG
NM_000527.5:c.1586+139_1586+140insCAGGG MANE Select NP_000518.1:n.1586+139_1586+140insCAGGG
NM_001195798.2:c.1586+139_1586+140insCAGGG NP_001182727.1:n.1586+139_1586+140insCAGGG
NM_001195799.2:c.1463+139_1463+140insCAGGG NP_001182728.1:n.1463+139_1463+140insCAGGG
NM_001195800.2:c.1082+139_1082+140insCAGGG NP_001182729.1:n.1082+139_1082+140insCAGGG
NM_001195803.2:c.1205+139_1205+140insCAGGG NP_001182732.1:n.1205+139_1205+140insCAGGG