Canonical Allele Identifier: CA10585729

Gene: LDLR

Linked Data

• ClinVar Variation Id: 252170
• ClinVar RCV Id: RCV000238198
• dbSNP Id: rs879255110
• MyVariant Identifiers: chr19:g.11231072del (hg19) ; chr19:g.11120396del (hg38)
• PubMed: PMID:1301956

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120396del , CM000681.2:g.11120396del	GRCh38
NC_000019.9:g.11231072del , CM000681.1:g.11231072del	GRCh37
NC_000019.8:g.11092072del	NCBI36
NG_009060.1:g.36016del , LRG_274:g.36016del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2272del	ENSP00000252444.6:p.Leu758Ter
ENST00000559340.2:c.*83del	ENSP00000453696.2:n.*83del
ENST00000560467.2:c.1894del	ENSP00000453513.2:p.Leu632Ter
ENST00000558518.6:c.2014del MANE Select	ENSP00000454071.1:p.Leu672Ter
ENST00000252444.9:c.2268del
ENST00000455727.6:c.1510del	ENSP00000397829.2:p.Leu504Ter
ENST00000535915.5:c.1891del	ENSP00000440520.1:p.Leu631Ter
ENST00000545707.5:c.1606+163del	ENSP00000437639.1:n.1606+163del
ENST00000557933.5:c.2014del	ENSP00000453557.1:p.Leu672Ter
ENST00000558013.5:c.2014del	ENSP00000453346.1:p.Leu672Ter
ENST00000558518.5:c.2014del	ENSP00000454071.1:p.Leu672Ter
ENST00000559340.1:c.595del
NM_000527.4:c.2014del , LRG_274t1:c.2014del	NP_000518.1:p.Leu672Ter
NM_001195798.1:c.2014del	NP_001182727.1:p.Leu672Ter
NM_001195799.1:c.1891del	NP_001182728.1:p.Leu631Ter
NM_001195800.1:c.1510del	NP_001182729.1:p.Leu504Ter
NM_001195803.1:c.1606+163del	NP_001182732.1:n.1606+163del
XM_011528010.1:c.2014del	XP_011526312.1:p.Leu672Ter
XM_011528011.1:c.1633del	XP_011526313.1:p.Leu545Ter
XR_244074.2:n.2024del
XM_011528010.2:c.2014del	XP_011526312.1:p.Leu672Ter
XR_001753685.2:n.2131del
XR_001753686.2:n.1991del
NM_000527.5:c.2014del MANE Select	NP_000518.1:p.Leu672Ter
NM_001195798.2:c.2014del	NP_001182727.1:p.Leu672Ter
NM_001195799.2:c.1891del	NP_001182728.1:p.Leu631Ter
NM_001195800.2:c.1510del	NP_001182729.1:p.Leu504Ter
NM_001195803.2:c.1606+163del	NP_001182732.1:n.1606+163del