Canonical Allele Identifier: CA10584850

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251149
• ClinVar RCV Id: RCV000238283
• dbSNP Id: rs879254472
• MyVariant Identifiers: chr19:g.11215898_11215918del (hg19) ; chr19:g.11105222_11105242del (hg38)
• PubMed: PMID:20809525

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105222_11105242del , CM000681.2:g.11105222_11105242del	GRCh38
NC_000019.9:g.11215898_11215918del , CM000681.1:g.11215898_11215918del	GRCh37
NC_000019.8:g.11076898_11076918del	NCBI36
NG_009060.1:g.20842_20862del , LRG_274:g.20842_20862del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.574_594del	ENSP00000252444.6:p.Pro192_Asp198del
ENST00000559340.2:c.316_336del	ENSP00000453696.2:p.Pro106_Asp112del
ENST00000560467.2:c.316_336del	ENSP00000453513.2:p.Pro106_Asp112del
ENST00000558518.6:c.316_336del MANE Select	ENSP00000454071.1:p.Pro106_Asp112del
ENST00000252444.9:c.570_590del
ENST00000455727.6:c.314-2170_314-2150del	ENSP00000397829.2:n.314-2170_314-2150del
ENST00000535915.5:c.193_213del	ENSP00000440520.1:p.Pro65_Asp71del
ENST00000545707.5:c.314-1343_314-1323del	ENSP00000437639.1:n.314-1343_314-1323del
ENST00000557933.5:c.316_336del	ENSP00000453557.1:p.Pro106_Asp112del
ENST00000558013.5:c.316_336del	ENSP00000453346.1:p.Pro106_Asp112del
ENST00000558518.5:c.316_336del	ENSP00000454071.1:p.Pro106_Asp112del
NM_000527.4:c.316_336del , LRG_274t1:c.316_336del	NP_000518.1:p.Pro106_Asp112del
NM_001195798.1:c.316_336del	NP_001182727.1:p.Pro106_Asp112del
NM_001195799.1:c.193_213del	NP_001182728.1:p.Pro65_Asp71del
NM_001195800.1:c.314-2170_314-2150del	NP_001182729.1:n.314-2170_314-2150del
NM_001195803.1:c.314-1343_314-1323del	NP_001182732.1:n.314-1343_314-1323del
XM_011528010.1:c.316_336del	XP_011526312.1:p.Pro106_Asp112del
XM_011528011.1:c.314-1343_314-1323del	XP_011526313.1:n.314-1343_314-1323del
XR_244074.2:n.466_486del
XM_011528010.2:c.316_336del	XP_011526312.1:p.Pro106_Asp112del
XR_001753685.2:n.433_453del
XR_001753686.2:n.433_453del
NM_000527.5:c.316_336del MANE Select	NP_000518.1:p.Pro106_Asp112del
NM_001195798.2:c.316_336del	NP_001182727.1:p.Pro106_Asp112del
NM_001195799.2:c.193_213del	NP_001182728.1:p.Pro65_Asp71del
NM_001195800.2:c.314-2170_314-2150del	NP_001182729.1:n.314-2170_314-2150del
NM_001195803.2:c.314-1343_314-1323del	NP_001182732.1:n.314-1343_314-1323del