Canonical Allele Identifier: CA2582473158
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105560_11105562dup , CM000681.2:g.11105560_11105562dup GRCh38
NC_000019.9:g.11216236_11216238dup , CM000681.1:g.11216236_11216238dup GRCh37
NC_000019.8:g.11077236_11077238dup NCBI36
NG_009060.1:g.21180_21182dup , LRG_274:g.21180_21182dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.912_914dup ENSP00000252444.6:p.Gly305_Pro306insGly
ENST00000559340.2:c.654_656dup ENSP00000453696.2:p.Gly219_Pro220insGly
ENST00000560467.2:c.654_656dup ENSP00000453513.2:p.Gly219_Pro220insGly
ENST00000558518.6:c.654_656dup MANE Select ENSP00000454071.1:p.Gly219_Pro220insGly
ENST00000252444.9:c.908_910dup
ENST00000455727.6:c.314-1832_314-1830dup ENSP00000397829.2:n.314-1832_314-1830dup
ENST00000535915.5:c.531_533dup ENSP00000440520.1:p.Gly178_Pro179insGly
ENST00000545707.5:c.314-1005_314-1003dup ENSP00000437639.1:n.314-1005_314-1003dup
ENST00000557933.5:c.654_656dup ENSP00000453557.1:p.Gly219_Pro220insGly
ENST00000558013.5:c.654_656dup ENSP00000453346.1:p.Gly219_Pro220insGly
ENST00000558518.5:c.654_656dup ENSP00000454071.1:p.Gly219_Pro220insGly
ENST00000560467.1:c.254_256dup
NM_000527.4:c.654_656dup , LRG_274t1:c.654_656dup NP_000518.1:p.Gly219_Pro220insGly
NM_001195798.1:c.654_656dup NP_001182727.1:p.Gly219_Pro220insGly
NM_001195799.1:c.531_533dup NP_001182728.1:p.Gly178_Pro179insGly
NM_001195800.1:c.314-1832_314-1830dup NP_001182729.1:n.314-1832_314-1830dup
NM_001195803.1:c.314-1005_314-1003dup NP_001182732.1:n.314-1005_314-1003dup
XM_011528010.1:c.654_656dup XP_011526312.1:p.Gly219_Pro220insGly
XM_011528011.1:c.314-1005_314-1003dup XP_011526313.1:n.314-1005_314-1003dup
XR_244074.2:n.804_806dup
XM_011528010.2:c.654_656dup XP_011526312.1:p.Gly219_Pro220insGly
XR_001753685.2:n.771_773dup
XR_001753686.2:n.771_773dup
NM_000527.5:c.654_656dup MANE Select NP_000518.1:p.Gly219_Pro220insGly
NM_001195798.2:c.654_656dup NP_001182727.1:p.Gly219_Pro220insGly
NM_001195799.2:c.531_533dup NP_001182728.1:p.Gly178_Pro179insGly
NM_001195800.2:c.314-1832_314-1830dup NP_001182729.1:n.314-1832_314-1830dup
NM_001195803.2:c.314-1005_314-1003dup NP_001182732.1:n.314-1005_314-1003dup