Canonical Allele Identifier: CA10584852

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251151
• ClinVar RCV Id: RCV000237749
• dbSNP Id: rs879254474
• MyVariant Identifiers: chr19:g.11215902_11215914del (hg19) ; chr19:g.11105226_11105238del (hg38)
• PubMed: PMID:16250003

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105226_11105238del , CM000681.2:g.11105226_11105238del	GRCh38
NC_000019.9:g.11215902_11215914del , CM000681.1:g.11215902_11215914del	GRCh37
NC_000019.8:g.11076902_11076914del	NCBI36
NG_009060.1:g.20846_20858del , LRG_274:g.20846_20858del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.578_590del	ENSP00000252444.6:p.Lys193ArgfsTer?
ENST00000559340.2:c.320_332del	ENSP00000453696.2:p.Lys107ArgfsTer?
ENST00000560467.2:c.320_332del	ENSP00000453513.2:p.Lys107ArgfsTer?
ENST00000558518.6:c.320_332del MANE Select	ENSP00000454071.1:p.Lys107ArgfsTer?
ENST00000252444.9:c.574_586del
ENST00000455727.6:c.314-2166_314-2154del	ENSP00000397829.2:n.314-2166_314-2154del
ENST00000535915.5:c.197_209del	ENSP00000440520.1:p.Lys66ArgfsTer?
ENST00000545707.5:c.314-1339_314-1327del	ENSP00000437639.1:n.314-1339_314-1327del
ENST00000557933.5:c.320_332del	ENSP00000453557.1:p.Lys107ArgfsTer?
ENST00000558013.5:c.320_332del	ENSP00000453346.1:p.Lys107ArgfsTer?
ENST00000558518.5:c.320_332del	ENSP00000454071.1:p.Lys107ArgfsTer?
NM_000527.4:c.320_332del , LRG_274t1:c.320_332del	NP_000518.1:p.Lys107ArgfsTer?
NM_001195798.1:c.320_332del	NP_001182727.1:p.Lys107ArgfsTer?
NM_001195799.1:c.197_209del	NP_001182728.1:p.Lys66ArgfsTer?
NM_001195800.1:c.314-2166_314-2154del	NP_001182729.1:n.314-2166_314-2154del
NM_001195803.1:c.314-1339_314-1327del	NP_001182732.1:n.314-1339_314-1327del
XM_011528010.1:c.320_332del	XP_011526312.1:p.Lys107ArgfsTer?
XM_011528011.1:c.314-1339_314-1327del	XP_011526313.1:n.314-1339_314-1327del
XR_244074.2:n.470_482del
XM_011528010.2:c.320_332del	XP_011526312.1:p.Lys107ArgfsTer?
XR_001753685.2:n.437_449del
XR_001753686.2:n.437_449del
NM_000527.5:c.320_332del MANE Select	NP_000518.1:p.Lys107ArgfsTer?
NM_001195798.2:c.320_332del	NP_001182727.1:p.Lys107ArgfsTer?
NM_001195799.2:c.197_209del	NP_001182728.1:p.Lys66ArgfsTer?
NM_001195800.2:c.314-2166_314-2154del	NP_001182729.1:n.314-2166_314-2154del
NM_001195803.2:c.314-1339_314-1327del	NP_001182732.1:n.314-1339_314-1327del