Canonical Allele Identifier: CA2322780313
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129630_11129631delinsTC , CM000681.2:g.11129630_11129631delinsTC GRCh38
NC_000019.9:g.11240306_11240307delinsTC , CM000681.1:g.11240306_11240307delinsTC GRCh37
NC_000019.8:g.11101306_11101307delinsTC NCBI36
NG_009060.1:g.45250_45251delinsTC , LRG_274:g.45250_45251delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2765_2766delinsTC ENSP00000252444.6:p.Val922=
ENST00000559340.2:c.*576_*577delinsTC ENSP00000453696.2:n.*576_*577delinsTC
ENST00000560467.2:c.2387_2388delinsTC ENSP00000453513.2:p.Val796=
ENST00000558518.6:c.2507_2508delinsTC MANE Select ENSP00000454071.1:p.Val836=
ENST00000252444.9:c.2761_2762delinsTC
ENST00000455727.6:c.2003_2004delinsTC ENSP00000397829.2:p.Val668=
ENST00000535915.5:c.2384_2385delinsTC ENSP00000440520.1:p.Val795=
ENST00000545707.5:c.1973_1974delinsTC ENSP00000437639.1:p.Val658=
ENST00000557933.5:c.2569_2570delinsTC ENSP00000453557.1:p.Ser857=
ENST00000558013.5:c.2507_2508delinsTC ENSP00000453346.1:p.Val836=
ENST00000558518.5:c.2507_2508delinsTC ENSP00000454071.1:p.Val836=
ENST00000560628.1:n.108+1976_108+1977delinsTC
NM_000527.4:c.2507_2508delinsTC , LRG_274t1:c.2507_2508delinsTC NP_000518.1:p.Val836=
NM_001195798.1:c.2507_2508delinsTC NP_001182727.1:p.Val836=
NM_001195799.1:c.2384_2385delinsTC NP_001182728.1:p.Val795=
NM_001195800.1:c.2003_2004delinsTC NP_001182729.1:p.Val668=
NM_001195803.1:c.1973_1974delinsTC NP_001182732.1:p.Val658=
XM_011528010.1:c.2429_2430delinsTC XP_011526312.1:p.Val810=
XM_011528011.1:c.2126_2127delinsTC XP_011526313.1:p.Val709=
XM_011528010.2:c.2429_2430delinsTC XP_011526312.1:p.Val810=
XR_001753685.2:n.2841_2842delinsTC
XR_001753686.2:n.2484_2485delinsTC
NM_000527.5:c.2507_2508delinsTC MANE Select NP_000518.1:p.Val836=
NM_001195798.2:c.2507_2508delinsTC NP_001182727.1:p.Val836=
NM_001195799.2:c.2384_2385delinsTC NP_001182728.1:p.Val795=
NM_001195800.2:c.2003_2004delinsTC NP_001182729.1:p.Val668=
NM_001195803.2:c.1973_1974delinsTC NP_001182732.1:p.Val658=