Canonical Allele Identifier: CA2573155725

Gene: LDLR

Linked Data

• dbSNP Id: rs2147223104

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105225_11105226del , CM000681.2:g.11105225_11105226del	GRCh38
NC_000019.9:g.11215901_11215902del , CM000681.1:g.11215901_11215902del	GRCh37
NC_000019.8:g.11076901_11076902del	NCBI36
NG_009060.1:g.20845_20846del , LRG_274:g.20845_20846del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.577_578del	ENSP00000252444.6:p.Lys193AspfsTer22
ENST00000559340.2:c.319_320del	ENSP00000453696.2:p.Lys107AspfsTer22
ENST00000560467.2:c.319_320del	ENSP00000453513.2:p.Lys107AspfsTer22
ENST00000558518.6:c.319_320del MANE Select	ENSP00000454071.1:p.Lys107AspfsTer22
ENST00000252444.9:c.573_574del
ENST00000455727.6:c.314-2167_314-2166del	ENSP00000397829.2:n.314-2167_314-2166del
ENST00000535915.5:c.196_197del	ENSP00000440520.1:p.Lys66AspfsTer22
ENST00000545707.5:c.314-1340_314-1339del	ENSP00000437639.1:n.314-1340_314-1339del
ENST00000557933.5:c.319_320del	ENSP00000453557.1:p.Lys107AspfsTer22
ENST00000558013.5:c.319_320del	ENSP00000453346.1:p.Lys107AspfsTer22
ENST00000558518.5:c.319_320del	ENSP00000454071.1:p.Lys107AspfsTer22
NM_000527.4:c.319_320del , LRG_274t1:c.319_320del	NP_000518.1:p.Lys107AspfsTer22
NM_001195798.1:c.319_320del	NP_001182727.1:p.Lys107AspfsTer22
NM_001195799.1:c.196_197del	NP_001182728.1:p.Lys66AspfsTer22
NM_001195800.1:c.314-2167_314-2166del	NP_001182729.1:n.314-2167_314-2166del
NM_001195803.1:c.314-1340_314-1339del	NP_001182732.1:n.314-1340_314-1339del
XM_011528010.1:c.319_320del	XP_011526312.1:p.Lys107AspfsTer22
XM_011528011.1:c.314-1340_314-1339del	XP_011526313.1:n.314-1340_314-1339del
XR_244074.2:n.469_470del
XM_011528010.2:c.319_320del	XP_011526312.1:p.Lys107AspfsTer22
XR_001753685.2:n.436_437del
XR_001753686.2:n.436_437del
NM_000527.5:c.319_320del MANE Select	NP_000518.1:p.Lys107AspfsTer22
NM_001195798.2:c.319_320del	NP_001182727.1:p.Lys107AspfsTer22
NM_001195799.2:c.196_197del	NP_001182728.1:p.Lys66AspfsTer22
NM_001195800.2:c.314-2167_314-2166del	NP_001182729.1:n.314-2167_314-2166del
NM_001195803.2:c.314-1340_314-1339del	NP_001182732.1:n.314-1340_314-1339del