Canonical Allele Identifier: CA2580096482

Gene: LDLR

Linked Data

• ClinVar Variation Id: 2091981
• ClinVar RCV Id: RCV003008092

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105573_11105583del , CM000681.2:g.11105573_11105583del	GRCh38
NC_000019.9:g.11216249_11216259del , CM000681.1:g.11216249_11216259del	GRCh37
NC_000019.8:g.11077249_11077259del	NCBI36
NG_009060.1:g.21193_21203del , LRG_274:g.21193_21203del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.925_935del	ENSP00000252444.6:p.Lys309Ter
ENST00000559340.2:c.667_677del	ENSP00000453696.2:p.Lys223Ter
ENST00000560467.2:c.667_677del	ENSP00000453513.2:p.Lys223Ter
ENST00000558518.6:c.667_677del MANE Select	ENSP00000454071.1:p.Lys223Ter
ENST00000252444.9:c.921_931del
ENST00000455727.6:c.314-1819_314-1809del	ENSP00000397829.2:n.314-1819_314-1809del
ENST00000535915.5:c.544_554del	ENSP00000440520.1:p.Lys182Ter
ENST00000545707.5:c.314-992_314-982del	ENSP00000437639.1:n.314-992_314-982del
ENST00000557933.5:c.667_677del	ENSP00000453557.1:p.Lys223Ter
ENST00000558013.5:c.667_677del	ENSP00000453346.1:p.Lys223Ter
ENST00000558518.5:c.667_677del	ENSP00000454071.1:p.Lys223Ter
ENST00000560467.1:c.267_277del
NM_000527.4:c.667_677del , LRG_274t1:c.667_677del	NP_000518.1:p.Lys223Ter
NM_001195798.1:c.667_677del	NP_001182727.1:p.Lys223Ter
NM_001195799.1:c.544_554del	NP_001182728.1:p.Lys182Ter
NM_001195800.1:c.314-1819_314-1809del	NP_001182729.1:n.314-1819_314-1809del
NM_001195803.1:c.314-992_314-982del	NP_001182732.1:n.314-992_314-982del
XM_011528010.1:c.667_677del	XP_011526312.1:p.Lys223Ter
XM_011528011.1:c.314-992_314-982del	XP_011526313.1:n.314-992_314-982del
XR_244074.2:n.817_827del
XM_011528010.2:c.667_677del	XP_011526312.1:p.Lys223Ter
XR_001753685.2:n.784_794del
XR_001753686.2:n.784_794del
NM_000527.5:c.667_677del MANE Select	NP_000518.1:p.Lys223Ter
NM_001195798.2:c.667_677del	NP_001182727.1:p.Lys223Ter
NM_001195799.2:c.544_554del	NP_001182728.1:p.Lys182Ter
NM_001195800.2:c.314-1819_314-1809del	NP_001182729.1:n.314-1819_314-1809del
NM_001195803.2:c.314-992_314-982del	NP_001182732.1:n.314-992_314-982del