Canonical Allele Identifier: CA2322775662
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120519_11120520delinsAC , CM000681.2:g.11120519_11120520delinsAC GRCh38
NC_000019.9:g.11231195_11231196delinsAC , CM000681.1:g.11231195_11231196delinsAC GRCh37
NC_000019.8:g.11092195_11092196delinsAC NCBI36
NG_009060.1:g.36139_36140delinsAC , LRG_274:g.36139_36140delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2395_2396delinsAC ENSP00000252444.6:p.Thr799=
ENST00000559340.2:c.*206_*207delinsAC ENSP00000453696.2:n.*206_*207delinsAC
ENST00000560467.2:c.2017_2018delinsAC ENSP00000453513.2:p.Thr673=
ENST00000558518.6:c.2137_2138delinsAC MANE Select ENSP00000454071.1:p.Thr713=
ENST00000252444.9:c.2391_2392delinsAC
ENST00000455727.6:c.1633_1634delinsAC ENSP00000397829.2:p.Thr545=
ENST00000535915.5:c.2014_2015delinsAC ENSP00000440520.1:p.Thr672=
ENST00000545707.5:c.1606+286_1606+287delinsAC ENSP00000437639.1:n.1606+286_1606+287delinsAC
ENST00000557933.5:c.2137_2138delinsAC ENSP00000453557.1:p.Thr713=
ENST00000558013.5:c.2137_2138delinsAC ENSP00000453346.1:p.Thr713=
ENST00000558518.5:c.2137_2138delinsAC ENSP00000454071.1:p.Thr713=
NM_000527.4:c.2137_2138delinsAC , LRG_274t1:c.2137_2138delinsAC NP_000518.1:p.Thr713=
NM_001195798.1:c.2137_2138delinsAC NP_001182727.1:p.Thr713=
NM_001195799.1:c.2014_2015delinsAC NP_001182728.1:p.Thr672=
NM_001195800.1:c.1633_1634delinsAC NP_001182729.1:p.Thr545=
NM_001195803.1:c.1606+286_1606+287delinsAC NP_001182732.1:n.1606+286_1606+287delinsAC
XM_011528010.1:c.2137_2138delinsAC XP_011526312.1:p.Thr713=
XM_011528011.1:c.1756_1757delinsAC XP_011526313.1:p.Thr586=
XR_244074.2:n.2147_2148delinsAC
XM_011528010.2:c.2137_2138delinsAC XP_011526312.1:p.Thr713=
XR_001753685.2:n.2254_2255delinsAC
XR_001753686.2:n.2114_2115delinsAC
NM_000527.5:c.2137_2138delinsAC MANE Select NP_000518.1:p.Thr713=
NM_001195798.2:c.2137_2138delinsAC NP_001182727.1:p.Thr713=
NM_001195799.2:c.2014_2015delinsAC NP_001182728.1:p.Thr672=
NM_001195800.2:c.1633_1634delinsAC NP_001182729.1:p.Thr545=
NM_001195803.2:c.1606+286_1606+287delinsAC NP_001182732.1:n.1606+286_1606+287delinsAC