Canonical Allele Identifier: CA10576269

Gene: LDLR

Linked Data

• ClinVar Variation Id: 226307
• ClinVar RCV Id: RCV000211570 ; RCV000775025
• dbSNP Id: rs875989889
• gnomAD v4: 19-11102667-CTG-C
• MyVariant Identifiers: chr19:g.11213345_11213346del (hg19) ; chr19:g.11102669_11102670del (hg38)
• PubMed: PMID:22881376 ; PMID:22883975

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11102669_11102670del , CM000681.2:g.11102669_11102670del	GRCh38
NC_000019.9:g.11213345_11213346del , CM000681.1:g.11213345_11213346del	GRCh37
NC_000019.8:g.11074345_11074346del	NCBI36
NG_009060.1:g.18289_18290del , LRG_274:g.18289_18290del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.454_455del	ENSP00000252444.6:p.Val152HisfsTer?
ENST00000559340.2:c.196_197del	ENSP00000453696.2:p.Val66HisfsTer?
ENST00000560467.2:c.196_197del	ENSP00000453513.2:p.Val66HisfsTer?
ENST00000558518.6:c.196_197del MANE Select	ENSP00000454071.1:p.Val66HisfsTer?
ENST00000252444.9:c.450_451del
ENST00000455727.6:c.196_197del	ENSP00000397829.2:p.Val66HisfsTer?
ENST00000535915.5:c.190+2324_190+2325del	ENSP00000440520.1:n.190+2324_190+2325del
ENST00000545707.5:c.196_197del	ENSP00000437639.1:p.Val66HisfsTer?
ENST00000557933.5:c.196_197del	ENSP00000453557.1:p.Val66HisfsTer?
ENST00000557958.1:n.282_283del
ENST00000558013.5:c.196_197del	ENSP00000453346.1:p.Val66HisfsTer?
ENST00000558518.5:c.196_197del	ENSP00000454071.1:p.Val66HisfsTer?
NM_000527.4:c.196_197del , LRG_274t1:c.196_197del	NP_000518.1:p.Val66HisfsTer?
NM_001195798.1:c.196_197del	NP_001182727.1:p.Val66HisfsTer?
NM_001195799.1:c.190+2324_190+2325del	NP_001182728.1:n.190+2324_190+2325del
NM_001195800.1:c.196_197del	NP_001182729.1:p.Val66HisfsTer?
NM_001195803.1:c.196_197del	NP_001182732.1:p.Val66HisfsTer?
XM_011528010.1:c.196_197del	XP_011526312.1:p.Val66HisfsTer?
XM_011528011.1:c.196_197del	XP_011526313.1:p.Val66HisfsTer?
XR_244074.2:n.346_347del
XM_011528010.2:c.196_197del	XP_011526312.1:p.Val66HisfsTer?
XR_001753685.2:n.313_314del
XR_001753686.2:n.313_314del
NM_000527.5:c.196_197del MANE Select	NP_000518.1:p.Val66HisfsTer?
NM_001195798.2:c.196_197del	NP_001182727.1:p.Val66HisfsTer?
NM_001195799.2:c.190+2324_190+2325del	NP_001182728.1:n.190+2324_190+2325del
NM_001195800.2:c.196_197del	NP_001182729.1:p.Val66HisfsTer?
NM_001195803.2:c.196_197del	NP_001182732.1:p.Val66HisfsTer?