Canonical Allele Identifier: CA2322775620
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120465_11120484delinsACCTGCGCCTGCCCGGACGG , CM000681.2:g.11120465_11120484delinsACCTGCGCCTGCCCGGACGG GRCh38
NC_000019.9:g.11231141_11231160delinsACCTGCGCCTGCCCGGACGG , CM000681.1:g.11231141_11231160delinsACCTGCGCCTGCCCGGACGG GRCh37
NC_000019.8:g.11092141_11092160delinsACCTGCGCCTGCCCGGACGG NCBI36
NG_009060.1:g.36085_36104delinsACCTGCGCCTGCCCGGACGG , LRG_274:g.36085_36104delinsACCTGCGCCTGCCCGGACGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2341_2360delinsACCTGCGCCTGCCCGGACGG ENSP00000252444.6:p.Thr781=
ENST00000559340.2:c.*152_*171delinsACCTGCGCCTGCCCGGACGG ENSP00000453696.2:n.*152_*171delinsACCTGCGCCTGCCCGGACGG
ENST00000560467.2:c.1963_1982delinsACCTGCGCCTGCCCGGACGG ENSP00000453513.2:p.Thr655=
ENST00000558518.6:c.2083_2102delinsACCTGCGCCTGCCCGGACGG MANE Select ENSP00000454071.1:p.Thr695=
ENST00000252444.9:c.2337_2356delinsACCTGCGCCTGCCCGGACGG
ENST00000455727.6:c.1579_1598delinsACCTGCGCCTGCCCGGACGG ENSP00000397829.2:p.Thr527=
ENST00000535915.5:c.1960_1979delinsACCTGCGCCTGCCCGGACGG ENSP00000440520.1:p.Thr654=
ENST00000545707.5:c.1606+232_1606+251delinsACCTGCGCCTGCCCGGACGG ENSP00000437639.1:n.1606+232_1606+251delinsACCTGCGCCTGCCCGGAC...
ENST00000557933.5:c.2083_2102delinsACCTGCGCCTGCCCGGACGG ENSP00000453557.1:p.Thr695=
ENST00000558013.5:c.2083_2102delinsACCTGCGCCTGCCCGGACGG ENSP00000453346.1:p.Thr695=
ENST00000558518.5:c.2083_2102delinsACCTGCGCCTGCCCGGACGG ENSP00000454071.1:p.Thr695=
NM_000527.4:c.2083_2102delinsACCTGCGCCTGCCCGGACGG , LRG_274t1:c.2083_2102delinsACCTGCGCCTGCCCGGACGG NP_000518.1:p.Thr695=
NM_001195798.1:c.2083_2102delinsACCTGCGCCTGCCCGGACGG NP_001182727.1:p.Thr695=
NM_001195799.1:c.1960_1979delinsACCTGCGCCTGCCCGGACGG NP_001182728.1:p.Thr654=
NM_001195800.1:c.1579_1598delinsACCTGCGCCTGCCCGGACGG NP_001182729.1:p.Thr527=
NM_001195803.1:c.1606+232_1606+251delinsACCTGCGCCTGCCCGGACGG NP_001182732.1:n.1606+232_1606+251delinsACCTGCGCCTGCCCGGACGG
XM_011528010.1:c.2083_2102delinsACCTGCGCCTGCCCGGACGG XP_011526312.1:p.Thr695=
XM_011528011.1:c.1702_1721delinsACCTGCGCCTGCCCGGACGG XP_011526313.1:p.Thr568=
XR_244074.2:n.2093_2112delinsACCTGCGCCTGCCCGGACGG
XM_011528010.2:c.2083_2102delinsACCTGCGCCTGCCCGGACGG XP_011526312.1:p.Thr695=
XR_001753685.2:n.2200_2219delinsACCTGCGCCTGCCCGGACGG
XR_001753686.2:n.2060_2079delinsACCTGCGCCTGCCCGGACGG
NM_000527.5:c.2083_2102delinsACCTGCGCCTGCCCGGACGG MANE Select NP_000518.1:p.Thr695=
NM_001195798.2:c.2083_2102delinsACCTGCGCCTGCCCGGACGG NP_001182727.1:p.Thr695=
NM_001195799.2:c.1960_1979delinsACCTGCGCCTGCCCGGACGG NP_001182728.1:p.Thr654=
NM_001195800.2:c.1579_1598delinsACCTGCGCCTGCCCGGACGG NP_001182729.1:p.Thr527=
NM_001195803.2:c.1606+232_1606+251delinsACCTGCGCCTGCCCGGACGG NP_001182732.1:n.1606+232_1606+251delinsACCTGCGCCTGCCCGGACGG