Canonical Allele Identifier: CA10585654

Gene: LDLR

Linked Data

• ClinVar Variation Id: 252082
• ClinVar RCV Id: RCV000238164
• dbSNP Id: rs879255053
• MyVariant Identifiers: chr19:g.11230777_11230778insA (hg19) ; chr19:g.11120101_11120102insA (hg38)
• PubMed: PMID:15701167

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120101_11120102insA , CM000681.2:g.11120101_11120102insA	GRCh38
NC_000019.9:g.11230777_11230778insA , CM000681.1:g.11230777_11230778insA	GRCh37
NC_000019.8:g.11091777_11091778insA	NCBI36
NG_009060.1:g.35721_35722insA , LRG_274:g.35721_35722insA

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2113_2114insA	ENSP00000252444.6:p.Phe705TyrfsTer26
ENST00000559340.2:c.1715_1716insA	ENSP00000453696.2:p.Leu573PhefsTer?
ENST00000560467.2:c.1735_1736insA	ENSP00000453513.2:p.Phe579TyrfsTer26
ENST00000558518.6:c.1855_1856insA MANE Select	ENSP00000454071.1:p.Phe619TyrfsTer26
ENST00000252444.9:c.2109_2110insA
ENST00000455727.6:c.1351_1352insA	ENSP00000397829.2:p.Phe451TyrfsTer26
ENST00000535915.5:c.1732_1733insA	ENSP00000440520.1:p.Phe578TyrfsTer26
ENST00000545707.5:c.1474_1475insA	ENSP00000437639.1:p.Phe492TyrfsTer26
ENST00000557933.5:c.1855_1856insA	ENSP00000453557.1:p.Phe619TyrfsTer26
ENST00000558013.5:c.1855_1856insA	ENSP00000453346.1:p.Phe619TyrfsTer26
ENST00000558518.5:c.1855_1856insA	ENSP00000454071.1:p.Phe619TyrfsTer26
ENST00000559340.1:c.436_437insA
NM_000527.4:c.1855_1856insA , LRG_274t1:c.1855_1856insA	NP_000518.1:p.Phe619TyrfsTer26
NM_001195798.1:c.1855_1856insA	NP_001182727.1:p.Phe619TyrfsTer26
NM_001195799.1:c.1732_1733insA	NP_001182728.1:p.Phe578TyrfsTer26
NM_001195800.1:c.1351_1352insA	NP_001182729.1:p.Phe451TyrfsTer26
NM_001195803.1:c.1474_1475insA	NP_001182732.1:p.Phe492TyrfsTer26
XM_011528010.1:c.1855_1856insA	XP_011526312.1:p.Phe619TyrfsTer26
XM_011528011.1:c.1474_1475insA	XP_011526313.1:p.Phe492TyrfsTer26
XR_244074.2:n.1865_1866insA
XM_011528010.2:c.1855_1856insA	XP_011526312.1:p.Phe619TyrfsTer26
XR_001753685.2:n.1972_1973insA
XR_001753686.2:n.1832_1833insA
NM_000527.5:c.1855_1856insA MANE Select	NP_000518.1:p.Phe619TyrfsTer26
NM_001195798.2:c.1855_1856insA	NP_001182727.1:p.Phe619TyrfsTer26
NM_001195799.2:c.1732_1733insA	NP_001182728.1:p.Phe578TyrfsTer26
NM_001195800.2:c.1351_1352insA	NP_001182729.1:p.Phe451TyrfsTer26
NM_001195803.2:c.1474_1475insA	NP_001182732.1:p.Phe492TyrfsTer26