Canonical Allele Identifier: CA2573050569

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105300_11105323del , CM000681.2:g.11105300_11105323del	GRCh38
NC_000019.9:g.11215976_11215999del , CM000681.1:g.11215976_11215999del	GRCh37
NC_000019.8:g.11076976_11076999del	NCBI36
NG_009060.1:g.20920_20943del , LRG_274:g.20920_20943del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.652_675del	ENSP00000252444.6:p.Arg218_Asp225del
ENST00000559340.2:c.394_417del	ENSP00000453696.2:p.Arg132_Asp139del
ENST00000560467.2:c.394_417del	ENSP00000453513.2:p.Arg132_Asp139del
ENST00000558518.6:c.394_417del MANE Select	ENSP00000454071.1:p.Arg132_Asp139del
ENST00000252444.9:c.648_671del
ENST00000455727.6:c.314-2092_314-2069del	ENSP00000397829.2:n.314-2092_314-2069del
ENST00000535915.5:c.271_294del	ENSP00000440520.1:p.Arg91_Asp98del
ENST00000545707.5:c.314-1265_314-1242del	ENSP00000437639.1:n.314-1265_314-1242del
ENST00000557933.5:c.394_417del	ENSP00000453557.1:p.Arg132_Asp139del
ENST00000558013.5:c.394_417del	ENSP00000453346.1:p.Arg132_Asp139del
ENST00000558518.5:c.394_417del	ENSP00000454071.1:p.Arg132_Asp139del
NM_000527.4:c.394_417del , LRG_274t1:c.394_417del	NP_000518.1:p.Arg132_Asp139del
NM_001195798.1:c.394_417del	NP_001182727.1:p.Arg132_Asp139del
NM_001195799.1:c.271_294del	NP_001182728.1:p.Arg91_Asp98del
NM_001195800.1:c.314-2092_314-2069del	NP_001182729.1:n.314-2092_314-2069del
NM_001195803.1:c.314-1265_314-1242del	NP_001182732.1:n.314-1265_314-1242del
XM_011528010.1:c.394_417del	XP_011526312.1:p.Arg132_Asp139del
XM_011528011.1:c.314-1265_314-1242del	XP_011526313.1:n.314-1265_314-1242del
XR_244074.2:n.544_567del
XM_011528010.2:c.394_417del	XP_011526312.1:p.Arg132_Asp139del
XR_001753685.2:n.511_534del
XR_001753686.2:n.511_534del
NM_000527.5:c.394_417del MANE Select	NP_000518.1:p.Arg132_Asp139del
NM_001195798.2:c.394_417del	NP_001182727.1:p.Arg132_Asp139del
NM_001195799.2:c.271_294del	NP_001182728.1:p.Arg91_Asp98del
NM_001195800.2:c.314-2092_314-2069del	NP_001182729.1:n.314-2092_314-2069del
NM_001195803.2:c.314-1265_314-1242del	NP_001182732.1:n.314-1265_314-1242del