Canonical Allele Identifier: CA658653704

Gene: LDLR

Linked Data

• ClinVar Variation Id: 441188
• ClinVar RCV Id: RCV000509197
• dbSNP Id: rs1555803455
• MyVariant Identifiers: chr19:g.11216253_11216257del (hg19) ; chr19:g.11105577_11105581del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105577_11105581del , CM000681.2:g.11105577_11105581del	GRCh38
NC_000019.9:g.11216253_11216257del , CM000681.1:g.11216253_11216257del	GRCh37
NC_000019.8:g.11077253_11077257del	NCBI36
NG_009060.1:g.21197_21201del , LRG_274:g.21197_21201del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.929_933del	ENSP00000252444.6:p.Asp310ValfsTer2
ENST00000559340.2:c.671_675del	ENSP00000453696.2:p.Asp224ValfsTer2
ENST00000560467.2:c.671_675del	ENSP00000453513.2:p.Asp224ValfsTer2
ENST00000558518.6:c.671_675del MANE Select	ENSP00000454071.1:p.Asp224ValfsTer2
ENST00000252444.9:c.925_929del
ENST00000455727.6:c.314-1815_314-1811del	ENSP00000397829.2:n.314-1815_314-1811del
ENST00000535915.5:c.548_552del	ENSP00000440520.1:p.Asp183ValfsTer2
ENST00000545707.5:c.314-988_314-984del	ENSP00000437639.1:n.314-988_314-984del
ENST00000557933.5:c.671_675del	ENSP00000453557.1:p.Asp224ValfsTer2
ENST00000558013.5:c.671_675del	ENSP00000453346.1:p.Asp224ValfsTer2
ENST00000558518.5:c.671_675del	ENSP00000454071.1:p.Asp224ValfsTer2
ENST00000560467.1:c.271_275del
NM_000527.4:c.671_675del , LRG_274t1:c.671_675del	NP_000518.1:p.Asp224ValfsTer2
NM_001195798.1:c.671_675del	NP_001182727.1:p.Asp224ValfsTer2
NM_001195799.1:c.548_552del	NP_001182728.1:p.Asp183ValfsTer2
NM_001195800.1:c.314-1815_314-1811del	NP_001182729.1:n.314-1815_314-1811del
NM_001195803.1:c.314-988_314-984del	NP_001182732.1:n.314-988_314-984del
XM_011528010.1:c.671_675del	XP_011526312.1:p.Asp224ValfsTer2
XM_011528011.1:c.314-988_314-984del	XP_011526313.1:n.314-988_314-984del
XR_244074.2:n.821_825del
XM_011528010.2:c.671_675del	XP_011526312.1:p.Asp224ValfsTer2
XR_001753685.2:n.788_792del
XR_001753686.2:n.788_792del
NM_000527.5:c.671_675del MANE Select	NP_000518.1:p.Asp224ValfsTer2
NM_001195798.2:c.671_675del	NP_001182727.1:p.Asp224ValfsTer2
NM_001195799.2:c.548_552del	NP_001182728.1:p.Asp183ValfsTer2
NM_001195800.2:c.314-1815_314-1811del	NP_001182729.1:n.314-1815_314-1811del
NM_001195803.2:c.314-988_314-984del	NP_001182732.1:n.314-988_314-984del