Canonical Allele Identifier: CA10585818

Gene: LDLR

Linked Data

• ClinVar Variation Id: 252270
• ClinVar RCV Id: RCV000238484
• dbSNP Id: rs879255174
• MyVariant Identifiers: chr19:g.11234008del (hg19) ; chr19:g.11123332del (hg38)
• PubMed: PMID:22417841

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11123332del , CM000681.2:g.11123332del	GRCh38
NC_000019.9:g.11234008del , CM000681.1:g.11234008del	GRCh37
NC_000019.8:g.11095008del	NCBI36
NG_009060.1:g.38952del , LRG_274:g.38952del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2557del	ENSP00000252444.6:p.Met853CysfsTer21
ENST00000559340.2:c.*368del	ENSP00000453696.2:n.*368del
ENST00000560467.2:c.2179del	ENSP00000453513.2:p.Met727CysfsTer21
ENST00000558518.6:c.2299del MANE Select	ENSP00000454071.1:p.Met767CysfsTer21
ENST00000252444.9:c.2553del
ENST00000455727.6:c.1795del	ENSP00000397829.2:p.Met599CysfsTer21
ENST00000535915.5:c.2176del	ENSP00000440520.1:p.Met726CysfsTer21
ENST00000545707.5:c.1765del	ENSP00000437639.1:p.Met589CysfsTer21
ENST00000557933.5:c.2299del	ENSP00000453557.1:p.Met767CysfsTer21
ENST00000558013.5:c.2299del	ENSP00000453346.1:p.Met767CysfsTer21
ENST00000558518.5:c.2299del	ENSP00000454071.1:p.Met767CysfsTer21
NM_000527.4:c.2299del , LRG_274t1:c.2299del	NP_000518.1:p.Met767CysfsTer21
NM_001195798.1:c.2299del	NP_001182727.1:p.Met767CysfsTer21
NM_001195799.1:c.2176del	NP_001182728.1:p.Met726CysfsTer21
NM_001195800.1:c.1795del	NP_001182729.1:p.Met599CysfsTer21
NM_001195803.1:c.1765del	NP_001182732.1:p.Met589CysfsTer21
XM_011528010.1:c.2299del	XP_011526312.1:p.Met767CysfsTer?
XM_011528011.1:c.1918del	XP_011526313.1:p.Met640CysfsTer21
XR_244074.2:n.2309del
XM_011528010.2:c.2299del	XP_011526312.1:p.Met767CysfsTer?
XR_001753685.2:n.2633del
XR_001753686.2:n.2276del
NM_000527.5:c.2299del MANE Select	NP_000518.1:p.Met767CysfsTer21
NM_001195798.2:c.2299del	NP_001182727.1:p.Met767CysfsTer21
NM_001195799.2:c.2176del	NP_001182728.1:p.Met726CysfsTer21
NM_001195800.2:c.1795del	NP_001182729.1:p.Met599CysfsTer21
NM_001195803.2:c.1765del	NP_001182732.1:p.Met589CysfsTer21