Canonical Allele Identifier: CA2499306837
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129538_11129539insA , CM000681.2:g.11129538_11129539insA GRCh38
NC_000019.9:g.11240214_11240215insA , CM000681.1:g.11240214_11240215insA GRCh37
NC_000019.8:g.11101214_11101215insA NCBI36
NG_009060.1:g.45158_45159insA , LRG_274:g.45158_45159insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2673_2674insA ENSP00000252444.6:p.Val892SerfsTer11
ENST00000559340.2:c.*484_*485insA ENSP00000453696.2:n.*484_*485insA
ENST00000560467.2:c.2295_2296insA ENSP00000453513.2:p.Val766SerfsTer11
ENST00000558518.6:c.2415_2416insA MANE Select ENSP00000454071.1:p.Val806SerfsTer11
ENST00000252444.9:c.2669_2670insA
ENST00000455727.6:c.1911_1912insA ENSP00000397829.2:p.Val638SerfsTer11
ENST00000535915.5:c.2292_2293insA ENSP00000440520.1:p.Val765SerfsTer11
ENST00000545707.5:c.1881_1882insA ENSP00000437639.1:p.Val628SerfsTer11
ENST00000557933.5:c.2477_2478insA ENSP00000453557.1:p.Ser827ValfsTer?
ENST00000558013.5:c.2415_2416insA ENSP00000453346.1:p.Val806SerfsTer11
ENST00000558518.5:c.2415_2416insA ENSP00000454071.1:p.Val806SerfsTer11
ENST00000560628.1:n.108+1884_108+1885insA
NM_000527.4:c.2415_2416insA , LRG_274t1:c.2415_2416insA NP_000518.1:p.Val806SerfsTer11
NM_001195798.1:c.2415_2416insA NP_001182727.1:p.Val806SerfsTer11
NM_001195799.1:c.2292_2293insA NP_001182728.1:p.Val765SerfsTer11
NM_001195800.1:c.1911_1912insA NP_001182729.1:p.Val638SerfsTer11
NM_001195803.1:c.1881_1882insA NP_001182732.1:p.Val628SerfsTer11
XM_011528010.1:c.2337_2338insA XP_011526312.1:p.Val780SerfsTer11
XM_011528011.1:c.2034_2035insA XP_011526313.1:p.Val679SerfsTer11
XR_244074.2:n.2425_2426insA
XM_011528010.2:c.2337_2338insA XP_011526312.1:p.Val780SerfsTer11
XR_001753685.2:n.2749_2750insA
XR_001753686.2:n.2392_2393insA
NM_000527.5:c.2415_2416insA MANE Select NP_000518.1:p.Val806SerfsTer11
NM_001195798.2:c.2415_2416insA NP_001182727.1:p.Val806SerfsTer11
NM_001195799.2:c.2292_2293insA NP_001182728.1:p.Val765SerfsTer11
NM_001195800.2:c.1911_1912insA NP_001182729.1:p.Val638SerfsTer11
NM_001195803.2:c.1881_1882insA NP_001182732.1:p.Val628SerfsTer11