Canonical Allele Identifier: CA2322779514
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11128017_11128018delinsAC , CM000681.2:g.11128017_11128018delinsAC GRCh38
NC_000019.9:g.11238693_11238694delinsAC , CM000681.1:g.11238693_11238694delinsAC GRCh37
NC_000019.8:g.11099693_11099694delinsAC NCBI36
NG_009060.1:g.43637_43638delinsAC , LRG_274:g.43637_43638delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2579_2580delinsAC ENSP00000252444.6:p.Asp860=
ENST00000559340.2:c.*390_*391delinsAC ENSP00000453696.2:n.*390_*391delinsAC
ENST00000560467.2:c.2201_2202delinsAC ENSP00000453513.2:p.Asp734=
ENST00000558518.6:c.2321_2322delinsAC MANE Select ENSP00000454071.1:p.Asp774=
ENST00000252444.9:c.2575_2576delinsAC
ENST00000455727.6:c.1817_1818delinsAC ENSP00000397829.2:p.Asp606=
ENST00000535915.5:c.2198_2199delinsAC ENSP00000440520.1:p.Asp733=
ENST00000545707.5:c.1787_1788delinsAC ENSP00000437639.1:p.Asp596=
ENST00000557933.5:c.2321_2322delinsAC ENSP00000453557.1:p.Asp774=
ENST00000558013.5:c.2321_2322delinsAC ENSP00000453346.1:p.Asp774=
ENST00000558518.5:c.2321_2322delinsAC ENSP00000454071.1:p.Asp774=
ENST00000560628.1:n.108+363_108+364delinsAC
NM_000527.4:c.2321_2322delinsAC , LRG_274t1:c.2321_2322delinsAC NP_000518.1:p.Asp774=
NM_001195798.1:c.2321_2322delinsAC NP_001182727.1:p.Asp774=
NM_001195799.1:c.2198_2199delinsAC NP_001182728.1:p.Asp733=
NM_001195800.1:c.1817_1818delinsAC NP_001182729.1:p.Asp606=
NM_001195803.1:c.1787_1788delinsAC NP_001182732.1:p.Asp596=
XM_011528010.1:c.2312-1496_2312-1495delinsAC XP_011526312.1:n.2312-1496_2312-1495delinsAC
XM_011528011.1:c.1940_1941delinsAC XP_011526313.1:p.Asp647=
XR_244074.2:n.2331_2332delinsAC
XM_011528010.2:c.2312-1496_2312-1495delinsAC XP_011526312.1:n.2312-1496_2312-1495delinsAC
XR_001753685.2:n.2655_2656delinsAC
XR_001753686.2:n.2298_2299delinsAC
NM_000527.5:c.2321_2322delinsAC MANE Select NP_000518.1:p.Asp774=
NM_001195798.2:c.2321_2322delinsAC NP_001182727.1:p.Asp774=
NM_001195799.2:c.2198_2199delinsAC NP_001182728.1:p.Asp733=
NM_001195800.2:c.1817_1818delinsAC NP_001182729.1:p.Asp606=
NM_001195803.2:c.1787_1788delinsAC NP_001182732.1:p.Asp596=