Canonical Allele Identifier: CA2582475493
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11123324_11123325dup , CM000681.2:g.11123324_11123325dup GRCh38
NC_000019.9:g.11234000_11234001dup , CM000681.1:g.11234000_11234001dup GRCh37
NC_000019.8:g.11095000_11095001dup NCBI36
NG_009060.1:g.38944_38945dup , LRG_274:g.38944_38945dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2549_2550dup ENSP00000252444.6:p.Val851Ter
ENST00000559340.2:c.*360_*361dup ENSP00000453696.2:n.*360_*361dup
ENST00000560467.2:c.2171_2172dup ENSP00000453513.2:p.Val725Ter
ENST00000558518.6:c.2291_2292dup MANE Select ENSP00000454071.1:p.Val765Ter
ENST00000252444.9:c.2545_2546dup
ENST00000455727.6:c.1787_1788dup ENSP00000397829.2:p.Val597Ter
ENST00000535915.5:c.2168_2169dup ENSP00000440520.1:p.Val724Ter
ENST00000545707.5:c.1757_1758dup ENSP00000437639.1:p.Val587Ter
ENST00000557933.5:c.2291_2292dup ENSP00000453557.1:p.Val765Ter
ENST00000558013.5:c.2291_2292dup ENSP00000453346.1:p.Val765Ter
ENST00000558518.5:c.2291_2292dup ENSP00000454071.1:p.Val765Ter
NM_000527.4:c.2291_2292dup , LRG_274t1:c.2291_2292dup NP_000518.1:p.Val765Ter
NM_001195798.1:c.2291_2292dup NP_001182727.1:p.Val765Ter
NM_001195799.1:c.2168_2169dup NP_001182728.1:p.Val724Ter
NM_001195800.1:c.1787_1788dup NP_001182729.1:p.Val597Ter
NM_001195803.1:c.1757_1758dup NP_001182732.1:p.Val587Ter
XM_011528010.1:c.2291_2292dup XP_011526312.1:p.Val765Ter
XM_011528011.1:c.1910_1911dup XP_011526313.1:p.Val638Ter
XR_244074.2:n.2301_2302dup
XM_011528010.2:c.2291_2292dup XP_011526312.1:p.Val765Ter
XR_001753685.2:n.2625_2626dup
XR_001753686.2:n.2268_2269dup
NM_000527.5:c.2291_2292dup MANE Select NP_000518.1:p.Val765Ter
NM_001195798.2:c.2291_2292dup NP_001182727.1:p.Val765Ter
NM_001195799.2:c.2168_2169dup NP_001182728.1:p.Val724Ter
NM_001195800.2:c.1787_1788dup NP_001182729.1:p.Val597Ter
NM_001195803.2:c.1757_1758dup NP_001182732.1:p.Val587Ter