Canonical Allele Identifier: CA2322775381
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120147_11120149delinsTCA , CM000681.2:g.11120147_11120149delinsTCA GRCh38
NC_000019.9:g.11230823_11230825delinsTCA , CM000681.1:g.11230823_11230825delinsTCA GRCh37
NC_000019.8:g.11091823_11091825delinsTCA NCBI36
NG_009060.1:g.35767_35769delinsTCA , LRG_274:g.35767_35769delinsTCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2159_2161delinsTCA ENSP00000252444.6:p.Leu720=
ENST00000559340.2:c.1761_1763delinsTCA ENSP00000453696.2:p.Pro587=
ENST00000560467.2:c.1781_1783delinsTCA ENSP00000453513.2:p.Leu594=
ENST00000558518.6:c.1901_1903delinsTCA MANE Select ENSP00000454071.1:p.Leu634=
ENST00000252444.9:c.2155_2157delinsTCA
ENST00000455727.6:c.1397_1399delinsTCA ENSP00000397829.2:p.Leu466=
ENST00000535915.5:c.1778_1780delinsTCA ENSP00000440520.1:p.Leu593=
ENST00000545707.5:c.1520_1522delinsTCA ENSP00000437639.1:p.Leu507=
ENST00000557933.5:c.1901_1903delinsTCA ENSP00000453557.1:p.Leu634=
ENST00000558013.5:c.1901_1903delinsTCA ENSP00000453346.1:p.Leu634=
ENST00000558518.5:c.1901_1903delinsTCA ENSP00000454071.1:p.Leu634=
ENST00000559340.1:c.482_484delinsTCA
NM_000527.4:c.1901_1903delinsTCA , LRG_274t1:c.1901_1903delinsTCA NP_000518.1:p.Leu634=
NM_001195798.1:c.1901_1903delinsTCA NP_001182727.1:p.Leu634=
NM_001195799.1:c.1778_1780delinsTCA NP_001182728.1:p.Leu593=
NM_001195800.1:c.1397_1399delinsTCA NP_001182729.1:p.Leu466=
NM_001195803.1:c.1520_1522delinsTCA NP_001182732.1:p.Leu507=
XM_011528010.1:c.1901_1903delinsTCA XP_011526312.1:p.Leu634=
XM_011528011.1:c.1520_1522delinsTCA XP_011526313.1:p.Leu507=
XR_244074.2:n.1911_1913delinsTCA
XM_011528010.2:c.1901_1903delinsTCA XP_011526312.1:p.Leu634=
XR_001753685.2:n.2018_2020delinsTCA
XR_001753686.2:n.1878_1880delinsTCA
NM_000527.5:c.1901_1903delinsTCA MANE Select NP_000518.1:p.Leu634=
NM_001195798.2:c.1901_1903delinsTCA NP_001182727.1:p.Leu634=
NM_001195799.2:c.1778_1780delinsTCA NP_001182728.1:p.Leu593=
NM_001195800.2:c.1397_1399delinsTCA NP_001182729.1:p.Leu466=
NM_001195803.2:c.1520_1522delinsTCA NP_001182732.1:p.Leu507=