Canonical Allele Identifier: CA2497030067

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113692_11113739del , CM000681.2:g.11113692_11113739del	GRCh38
NC_000019.9:g.11224368_11224415del , CM000681.1:g.11224368_11224415del	GRCh37
NC_000019.8:g.11085368_11085415del	NCBI36
NG_009060.1:g.29312_29359del , LRG_274:g.29312_29359del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1774_1821del	ENSP00000252444.6:p.Val592_Ala607del
ENST00000559340.2:c.1516_1563del	ENSP00000453696.2:p.Val506_Ala521del
ENST00000560467.2:c.1396_1443del	ENSP00000453513.2:p.Val466_Ala481del
ENST00000558518.6:c.1516_1563del MANE Select	ENSP00000454071.1:p.Val506_Ala521del
ENST00000252444.9:c.1770_1817del
ENST00000455727.6:c.1012_1059del	ENSP00000397829.2:p.Val338_Ala353del
ENST00000535915.5:c.1393_1440del	ENSP00000440520.1:p.Val465_Ala480del
ENST00000545707.5:c.1135_1182del	ENSP00000437639.1:p.Val379_Ala394del
ENST00000557933.5:c.1516_1563del	ENSP00000453557.1:p.Val506_Ala521del
ENST00000558013.5:c.1516_1563del	ENSP00000453346.1:p.Val506_Ala521del
ENST00000558518.5:c.1516_1563del	ENSP00000454071.1:p.Val506_Ala521del
ENST00000559340.1:c.237_284del
NM_000527.4:c.1516_1563del , LRG_274t1:c.1516_1563del	NP_000518.1:p.Val506_Ala521del
NM_001195798.1:c.1516_1563del	NP_001182727.1:p.Val506_Ala521del
NM_001195799.1:c.1393_1440del	NP_001182728.1:p.Val465_Ala480del
NM_001195800.1:c.1012_1059del	NP_001182729.1:p.Val338_Ala353del
NM_001195803.1:c.1135_1182del	NP_001182732.1:p.Val379_Ala394del
XM_011528010.1:c.1516_1563del	XP_011526312.1:p.Val506_Ala521del
XM_011528011.1:c.1135_1182del	XP_011526313.1:p.Val379_Ala394del
XR_244074.2:n.1666_1713del
XM_011528010.2:c.1516_1563del	XP_011526312.1:p.Val506_Ala521del
XR_001753685.2:n.1633_1680del
XR_001753686.2:n.1633_1680del
NM_000527.5:c.1516_1563del MANE Select	NP_000518.1:p.Val506_Ala521del
NM_001195798.2:c.1516_1563del	NP_001182727.1:p.Val506_Ala521del
NM_001195799.2:c.1393_1440del	NP_001182728.1:p.Val465_Ala480del
NM_001195800.2:c.1012_1059del	NP_001182729.1:p.Val338_Ala353del
NM_001195803.2:c.1135_1182del	NP_001182732.1:p.Val379_Ala394del