Canonical Allele Identifier: CA2813590029

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120227_11120228insACACCCAACA , CM000681.2:g.11120227_11120228insACACCCAACA	GRCh38
NC_000019.9:g.11230903_11230904insACACCCAACA , CM000681.1:g.11230903_11230904insACACCCAACA	GRCh37
NC_000019.8:g.11091903_11091904insACACCCAACA	NCBI36
NG_009060.1:g.35847_35848insACACCCAACA , LRG_274:g.35847_35848insACACCCAACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2239_2240insACACCCAACA	ENSP00000252444.6:p.Pro747HisfsTer11
ENST00000559340.2:c.*50_*51insACACCCAACA	ENSP00000453696.2:n.*50_*51insACACCCAACA
ENST00000560467.2:c.1861_1862insACACCCAACA	ENSP00000453513.2:p.Pro621HisfsTer11
ENST00000558518.6:c.1981_1982insACACCCAACA MANE Select	ENSP00000454071.1:p.Pro661HisfsTer11
ENST00000252444.9:c.2235_2236insACACCCAACA
ENST00000455727.6:c.1477_1478insACACCCAACA	ENSP00000397829.2:p.Pro493HisfsTer11
ENST00000535915.5:c.1858_1859insACACCCAACA	ENSP00000440520.1:p.Pro620HisfsTer11
ENST00000545707.5:c.1600_1601insACACCCAACA	ENSP00000437639.1:p.Pro534HisfsTer8
ENST00000557933.5:c.1981_1982insACACCCAACA	ENSP00000453557.1:p.Pro661HisfsTer11
ENST00000558013.5:c.1981_1982insACACCCAACA	ENSP00000453346.1:p.Pro661HisfsTer11
ENST00000558518.5:c.1981_1982insACACCCAACA	ENSP00000454071.1:p.Pro661HisfsTer11
ENST00000559340.1:c.562_563insACACCCAACA
NM_000527.4:c.1981_1982insACACCCAACA , LRG_274t1:c.1981_1982insACACCCAACA	NP_000518.1:p.Pro661HisfsTer11
NM_001195798.1:c.1981_1982insACACCCAACA	NP_001182727.1:p.Pro661HisfsTer11
NM_001195799.1:c.1858_1859insACACCCAACA	NP_001182728.1:p.Pro620HisfsTer11
NM_001195800.1:c.1477_1478insACACCCAACA	NP_001182729.1:p.Pro493HisfsTer11
NM_001195803.1:c.1600_1601insACACCCAACA	NP_001182732.1:p.Pro534HisfsTer8
XM_011528010.1:c.1981_1982insACACCCAACA	XP_011526312.1:p.Pro661HisfsTer11
XM_011528011.1:c.1600_1601insACACCCAACA	XP_011526313.1:p.Pro534HisfsTer11
XR_244074.2:n.1991_1992insACACCCAACA
XM_011528010.2:c.1981_1982insACACCCAACA	XP_011526312.1:p.Pro661HisfsTer11
XR_001753685.2:n.2098_2099insACACCCAACA
XR_001753686.2:n.1958_1959insACACCCAACA
NM_000527.5:c.1981_1982insACACCCAACA MANE Select	NP_000518.1:p.Pro661HisfsTer11
NM_001195798.2:c.1981_1982insACACCCAACA	NP_001182727.1:p.Pro661HisfsTer11
NM_001195799.2:c.1858_1859insACACCCAACA	NP_001182728.1:p.Pro620HisfsTer11
NM_001195800.2:c.1477_1478insACACCCAACA	NP_001182729.1:p.Pro493HisfsTer11
NM_001195803.2:c.1600_1601insACACCCAACA	NP_001182732.1:p.Pro534HisfsTer8