Canonical Allele Identifier: CA10585048

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251355
• ClinVar RCV Id: RCV000238466 ; RCV000799450
• dbSNP Id: rs879254619
• MyVariant Identifiers: chr19:g.11216243_11216259del (hg19) ; chr19:g.11105567_11105583del (hg38)
• PubMed: PMID:15359125

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105567_11105583del , CM000681.2:g.11105567_11105583del	GRCh38
NC_000019.9:g.11216243_11216259del , CM000681.1:g.11216243_11216259del	GRCh37
NC_000019.8:g.11077243_11077259del	NCBI36
NG_009060.1:g.21187_21203del , LRG_274:g.21187_21203del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.919_935del	ENSP00000252444.6:p.Asp307Ter
ENST00000559340.2:c.661_677del	ENSP00000453696.2:p.Asp221Ter
ENST00000560467.2:c.661_677del	ENSP00000453513.2:p.Asp221Ter
ENST00000558518.6:c.661_677del MANE Select	ENSP00000454071.1:p.Asp221Ter
ENST00000252444.9:c.915_931del
ENST00000455727.6:c.314-1825_314-1809del	ENSP00000397829.2:n.314-1825_314-1809del
ENST00000535915.5:c.538_554del	ENSP00000440520.1:p.Asp180Ter
ENST00000545707.5:c.314-998_314-982del	ENSP00000437639.1:n.314-998_314-982del
ENST00000557933.5:c.661_677del	ENSP00000453557.1:p.Asp221Ter
ENST00000558013.5:c.661_677del	ENSP00000453346.1:p.Asp221Ter
ENST00000558518.5:c.661_677del	ENSP00000454071.1:p.Asp221Ter
ENST00000560467.1:c.261_277del
NM_000527.4:c.661_677del , LRG_274t1:c.661_677del	NP_000518.1:p.Asp221Ter
NM_001195798.1:c.661_677del	NP_001182727.1:p.Asp221Ter
NM_001195799.1:c.538_554del	NP_001182728.1:p.Asp180Ter
NM_001195800.1:c.314-1825_314-1809del	NP_001182729.1:n.314-1825_314-1809del
NM_001195803.1:c.314-998_314-982del	NP_001182732.1:n.314-998_314-982del
XM_011528010.1:c.661_677del	XP_011526312.1:p.Asp221Ter
XM_011528011.1:c.314-998_314-982del	XP_011526313.1:n.314-998_314-982del
XR_244074.2:n.811_827del
XM_011528010.2:c.661_677del	XP_011526312.1:p.Asp221Ter
XR_001753685.2:n.778_794del
XR_001753686.2:n.778_794del
NM_000527.5:c.661_677del MANE Select	NP_000518.1:p.Asp221Ter
NM_001195798.2:c.661_677del	NP_001182727.1:p.Asp221Ter
NM_001195799.2:c.538_554del	NP_001182728.1:p.Asp180Ter
NM_001195800.2:c.314-1825_314-1809del	NP_001182729.1:n.314-1825_314-1809del
NM_001195803.2:c.314-998_314-982del	NP_001182732.1:n.314-998_314-982del