Canonical Allele Identifier: CA2322777174
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11123198_11123199delinsAG , CM000681.2:g.11123198_11123199delinsAG GRCh38
NC_000019.9:g.11233874_11233875delinsAG , CM000681.1:g.11233874_11233875delinsAG GRCh37
NC_000019.8:g.11094874_11094875delinsAG NCBI36
NG_009060.1:g.38818_38819delinsAG , LRG_274:g.38818_38819delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2423_2424delinsAG ENSP00000252444.6:p.Gln808=
ENST00000559340.2:c.*234_*235delinsAG ENSP00000453696.2:n.*234_*235delinsAG
ENST00000560467.2:c.2045_2046delinsAG ENSP00000453513.2:p.Gln682=
ENST00000558518.6:c.2165_2166delinsAG MANE Select ENSP00000454071.1:p.Gln722=
ENST00000252444.9:c.2419_2420delinsAG
ENST00000455727.6:c.1661_1662delinsAG ENSP00000397829.2:p.Gln554=
ENST00000535915.5:c.2042_2043delinsAG ENSP00000440520.1:p.Gln681=
ENST00000545707.5:c.1631_1632delinsAG ENSP00000437639.1:p.Gln544=
ENST00000557933.5:c.2165_2166delinsAG ENSP00000453557.1:p.Gln722=
ENST00000558013.5:c.2165_2166delinsAG ENSP00000453346.1:p.Gln722=
ENST00000558518.5:c.2165_2166delinsAG ENSP00000454071.1:p.Gln722=
NM_000527.4:c.2165_2166delinsAG , LRG_274t1:c.2165_2166delinsAG NP_000518.1:p.Gln722=
NM_001195798.1:c.2165_2166delinsAG NP_001182727.1:p.Gln722=
NM_001195799.1:c.2042_2043delinsAG NP_001182728.1:p.Gln681=
NM_001195800.1:c.1661_1662delinsAG NP_001182729.1:p.Gln554=
NM_001195803.1:c.1631_1632delinsAG NP_001182732.1:p.Gln544=
XM_011528010.1:c.2165_2166delinsAG XP_011526312.1:p.Gln722=
XM_011528011.1:c.1784_1785delinsAG XP_011526313.1:p.Gln595=
XR_244074.2:n.2175_2176delinsAG
XM_011528010.2:c.2165_2166delinsAG XP_011526312.1:p.Gln722=
XR_001753685.2:n.2499_2500delinsAG
XR_001753686.2:n.2142_2143delinsAG
NM_000527.5:c.2165_2166delinsAG MANE Select NP_000518.1:p.Gln722=
NM_001195798.2:c.2165_2166delinsAG NP_001182727.1:p.Gln722=
NM_001195799.2:c.2042_2043delinsAG NP_001182728.1:p.Gln681=
NM_001195800.2:c.1661_1662delinsAG NP_001182729.1:p.Gln554=
NM_001195803.2:c.1631_1632delinsAG NP_001182732.1:p.Gln544=