Canonical Allele Identifier: CA10585703

Gene: LDLR

Linked Data

• ClinVar Variation Id: 252139
• ClinVar RCV Id: RCV000237818
• dbSNP Id: rs879255093
• MyVariant Identifiers: chr19:g.11230897_11230925del (hg19) ; chr19:g.11120221_11120249del (hg38)
• PubMed: PMID:26892515

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120221_11120249del , CM000681.2:g.11120221_11120249del	GRCh38
NC_000019.9:g.11230897_11230925del , CM000681.1:g.11230897_11230925del	GRCh37
NC_000019.8:g.11091897_11091925del	NCBI36
NG_009060.1:g.35841_35869del , LRG_274:g.35841_35869del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2233_2245+16del
ENST00000559340.2:c.*44_*56+16del
ENST00000560467.2:c.1855_1867+16del
ENST00000558518.6:c.1975_1987+16del
ENST00000252444.9:c.2229_2241+16del
ENST00000455727.6:c.1471_1483+16del
ENST00000535915.5:c.1852_1864+16del
ENST00000545707.5:c.1594_1606+16del
ENST00000557933.5:c.1975_1987+16del
ENST00000558013.5:c.1975_1987+16del
ENST00000558518.5:c.1975_1987+16del
ENST00000559340.1:c.556_568+16del
NM_000527.4:c.1975_1987+16del , LRG_274t1:c.1975_1987+16del
NM_001195798.1:c.1975_1987+16del
NM_001195799.1:c.1852_1864+16del
NM_001195800.1:c.1471_1483+16del
NM_001195803.1:c.1594_1606+16del
XM_011528010.1:c.1975_1987+16del
XM_011528011.1:c.1594_1606+16del
XR_244074.2:n.1985_1997+16del
XM_011528010.2:c.1975_1987+16del
XR_001753685.2:n.2092_2104+16del
XR_001753686.2:n.1952_1964+16del
NM_000527.5:c.1975_1987+16del
NM_001195798.2:c.1975_1987+16del
NM_001195799.2:c.1852_1864+16del
NM_001195800.2:c.1471_1483+16del
NM_001195803.2:c.1594_1606+16del