Canonical Allele Identifier: CA2322775651
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120505_11120508delinsTGAG , CM000681.2:g.11120505_11120508delinsTGAG GRCh38
NC_000019.9:g.11231181_11231184delinsTGAG , CM000681.1:g.11231181_11231184delinsTGAG GRCh37
NC_000019.8:g.11092181_11092184delinsTGAG NCBI36
NG_009060.1:g.36125_36128delinsTGAG , LRG_274:g.36125_36128delinsTGAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2381_2384delinsTGAG ENSP00000252444.6:p.Met794=
ENST00000559340.2:c.*192_*195delinsTGAG ENSP00000453696.2:n.*192_*195delinsTGAG
ENST00000560467.2:c.2003_2006delinsTGAG ENSP00000453513.2:p.Met668=
ENST00000558518.6:c.2123_2126delinsTGAG MANE Select ENSP00000454071.1:p.Met708=
ENST00000252444.9:c.2377_2380delinsTGAG
ENST00000455727.6:c.1619_1622delinsTGAG ENSP00000397829.2:p.Met540=
ENST00000535915.5:c.2000_2003delinsTGAG ENSP00000440520.1:p.Met667=
ENST00000545707.5:c.1606+272_1606+275delinsTGAG ENSP00000437639.1:n.1606+272_1606+275delinsTGAG
ENST00000557933.5:c.2123_2126delinsTGAG ENSP00000453557.1:p.Met708=
ENST00000558013.5:c.2123_2126delinsTGAG ENSP00000453346.1:p.Met708=
ENST00000558518.5:c.2123_2126delinsTGAG ENSP00000454071.1:p.Met708=
NM_000527.4:c.2123_2126delinsTGAG , LRG_274t1:c.2123_2126delinsTGAG NP_000518.1:p.Met708=
NM_001195798.1:c.2123_2126delinsTGAG NP_001182727.1:p.Met708=
NM_001195799.1:c.2000_2003delinsTGAG NP_001182728.1:p.Met667=
NM_001195800.1:c.1619_1622delinsTGAG NP_001182729.1:p.Met540=
NM_001195803.1:c.1606+272_1606+275delinsTGAG NP_001182732.1:n.1606+272_1606+275delinsTGAG
XM_011528010.1:c.2123_2126delinsTGAG XP_011526312.1:p.Met708=
XM_011528011.1:c.1742_1745delinsTGAG XP_011526313.1:p.Met581=
XR_244074.2:n.2133_2136delinsTGAG
XM_011528010.2:c.2123_2126delinsTGAG XP_011526312.1:p.Met708=
XR_001753685.2:n.2240_2243delinsTGAG
XR_001753686.2:n.2100_2103delinsTGAG
NM_000527.5:c.2123_2126delinsTGAG MANE Select NP_000518.1:p.Met708=
NM_001195798.2:c.2123_2126delinsTGAG NP_001182727.1:p.Met708=
NM_001195799.2:c.2000_2003delinsTGAG NP_001182728.1:p.Met667=
NM_001195800.2:c.1619_1622delinsTGAG NP_001182729.1:p.Met540=
NM_001195803.2:c.1606+272_1606+275delinsTGAG NP_001182732.1:n.1606+272_1606+275delinsTGAG