Canonical Allele Identifier: CA9204951

Gene: LDLR

Linked Data

• ClinVar Variation Id: 226381
• ClinVar RCV Id: RCV000211682 ; RCV002229200
• dbSNP Id: rs875989935
• ExAC: 19:11230873 GAT / G
• gnomAD v2: 19-11230873-GAT-G
• MyVariant Identifiers: chr19:g.11230876_11230877del (hg19) ; chr19:g.11230874_11230875del (hg19) ; chr19:g.11120200_11120201del (hg38) ; chr19:g.11120198_11120199del (hg38)
• PubMed: PMID:20538126 ; PMID:22883975

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120200_11120201del , CM000681.2:g.11120200_11120201del	GRCh38
NC_000019.9:g.11230876_11230877del , CM000681.1:g.11230876_11230877del	GRCh37
NC_000019.8:g.11091876_11091877del	NCBI36
NG_009060.1:g.35820_35821del , LRG_274:g.35820_35821del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2212_2213del	ENSP00000252444.6:p.Met738GlyfsTer16
ENST00000559340.2:c.*23_*24del	ENSP00000453696.2:n.*23_*24del
ENST00000560467.2:c.1834_1835del	ENSP00000453513.2:p.Met612GlyfsTer16
ENST00000558518.6:c.1954_1955del MANE Select	ENSP00000454071.1:p.Met652GlyfsTer16
ENST00000252444.9:c.2208_2209del
ENST00000455727.6:c.1450_1451del	ENSP00000397829.2:p.Met484GlyfsTer16
ENST00000535915.5:c.1831_1832del	ENSP00000440520.1:p.Met611GlyfsTer16
ENST00000545707.5:c.1573_1574del	ENSP00000437639.1:p.Met525GlyfsTer13
ENST00000557933.5:c.1954_1955del	ENSP00000453557.1:p.Met652GlyfsTer16
ENST00000558013.5:c.1954_1955del	ENSP00000453346.1:p.Met652GlyfsTer16
ENST00000558518.5:c.1954_1955del	ENSP00000454071.1:p.Met652GlyfsTer16
ENST00000559340.1:c.535_536del
NM_000527.4:c.1954_1955del , LRG_274t1:c.1954_1955del	NP_000518.1:p.Met652GlyfsTer16
NM_001195798.1:c.1954_1955del	NP_001182727.1:p.Met652GlyfsTer16
NM_001195799.1:c.1831_1832del	NP_001182728.1:p.Met611GlyfsTer16
NM_001195800.1:c.1450_1451del	NP_001182729.1:p.Met484GlyfsTer16
NM_001195803.1:c.1573_1574del	NP_001182732.1:p.Met525GlyfsTer13
XM_011528010.1:c.1954_1955del	XP_011526312.1:p.Met652GlyfsTer16
XM_011528011.1:c.1573_1574del	XP_011526313.1:p.Met525GlyfsTer16
XR_244074.2:n.1964_1965del
XM_011528010.2:c.1954_1955del	XP_011526312.1:p.Met652GlyfsTer16
XR_001753685.2:n.2071_2072del
XR_001753686.2:n.1931_1932del
NM_000527.5:c.1954_1955del MANE Select	NP_000518.1:p.Met652GlyfsTer16
NM_001195798.2:c.1954_1955del	NP_001182727.1:p.Met652GlyfsTer16
NM_001195799.2:c.1831_1832del	NP_001182728.1:p.Met611GlyfsTer16
NM_001195800.2:c.1450_1451del	NP_001182729.1:p.Met484GlyfsTer16
NM_001195803.2:c.1573_1574del	NP_001182732.1:p.Met525GlyfsTer13