Canonical Allele Identifier: CA2830773957
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11116892_11116893insTGT , CM000681.2:g.11116892_11116893insTGT GRCh38
NC_000019.9:g.11227568_11227569insTGT , CM000681.1:g.11227568_11227569insTGT GRCh37
NC_000019.8:g.11088568_11088569insTGT NCBI36
NG_009060.1:g.32512_32513insTGT , LRG_274:g.32512_32513insTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1997_1998insTGT ENSP00000252444.6:p.Ser666_Lys667insVal
ENST00000559340.2:c.1705+680_1705+681insTGT ENSP00000453696.2:n.1705+680_1705+681insTGT
ENST00000560467.2:c.1619_1620insTGT ENSP00000453513.2:p.Ser540_Lys541insVal
ENST00000558518.6:c.1739_1740insTGT MANE Select ENSP00000454071.1:p.Ser580_Lys581insVal
ENST00000252444.9:c.1993_1994insTGT
ENST00000455727.6:c.1235_1236insTGT ENSP00000397829.2:p.Ser412_Lys413insVal
ENST00000535915.5:c.1616_1617insTGT ENSP00000440520.1:p.Ser539_Lys540insVal
ENST00000545707.5:c.1358_1359insTGT ENSP00000437639.1:p.Ser453_Lys454insVal
ENST00000557933.5:c.1739_1740insTGT ENSP00000453557.1:p.Ser580_Lys581insVal
ENST00000558013.5:c.1739_1740insTGT ENSP00000453346.1:p.Ser580_Lys581insVal
ENST00000558518.5:c.1739_1740insTGT ENSP00000454071.1:p.Ser580_Lys581insVal
ENST00000559340.1:c.426+680_426+681insTGT
NM_000527.4:c.1739_1740insTGT , LRG_274t1:c.1739_1740insTGT NP_000518.1:p.Ser580_Lys581insVal
NM_001195798.1:c.1739_1740insTGT NP_001182727.1:p.Ser580_Lys581insVal
NM_001195799.1:c.1616_1617insTGT NP_001182728.1:p.Ser539_Lys540insVal
NM_001195800.1:c.1235_1236insTGT NP_001182729.1:p.Ser412_Lys413insVal
NM_001195803.1:c.1358_1359insTGT NP_001182732.1:p.Ser453_Lys454insVal
XM_011528010.1:c.1739_1740insTGT XP_011526312.1:p.Ser580_Lys581insVal
XM_011528011.1:c.1358_1359insTGT XP_011526313.1:p.Ser453_Lys454insVal
XR_244074.2:n.1855+680_1855+681insTGT
XM_011528010.2:c.1739_1740insTGT XP_011526312.1:p.Ser580_Lys581insVal
XR_001753685.2:n.1856_1857insTGT
XR_001753686.2:n.1822+680_1822+681insTGT
NM_000527.5:c.1739_1740insTGT MANE Select NP_000518.1:p.Ser580_Lys581insVal
NM_001195798.2:c.1739_1740insTGT NP_001182727.1:p.Ser580_Lys581insVal
NM_001195799.2:c.1616_1617insTGT NP_001182728.1:p.Ser539_Lys540insVal
NM_001195800.2:c.1235_1236insTGT NP_001182729.1:p.Ser412_Lys413insVal
NM_001195803.2:c.1358_1359insTGT NP_001182732.1:p.Ser453_Lys454insVal