Canonical Allele Identifier: CA10585685

Gene: LDLR

Linked Data

• ClinVar Variation Id: 252117
• ClinVar RCV Id: RCV000237759
• dbSNP Id: rs879255077
• MyVariant Identifiers: chr19:g.11230857_11230858insA (hg19) ; chr19:g.11120181_11120182insA (hg38)
• PubMed: PMID:17765246

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120181_11120182insA , CM000681.2:g.11120181_11120182insA	GRCh38
NC_000019.9:g.11230857_11230858insA , CM000681.1:g.11230857_11230858insA	GRCh37
NC_000019.8:g.11091857_11091858insA	NCBI36
NG_009060.1:g.35801_35802insA , LRG_274:g.35801_35802insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2193_2194insA	ENSP00000252444.6:p.Leu732ThrfsTer23
ENST00000559340.2:c.*4_*5insA	ENSP00000453696.2:n.*4_*5insA
ENST00000560467.2:c.1815_1816insA	ENSP00000453513.2:p.Leu606ThrfsTer23
ENST00000558518.6:c.1935_1936insA MANE Select	ENSP00000454071.1:p.Leu646ThrfsTer23
ENST00000252444.9:c.2189_2190insA
ENST00000455727.6:c.1431_1432insA	ENSP00000397829.2:p.Leu478ThrfsTer23
ENST00000535915.5:c.1812_1813insA	ENSP00000440520.1:p.Leu605ThrfsTer23
ENST00000545707.5:c.1554_1555insA	ENSP00000437639.1:p.Leu519ThrfsTer20
ENST00000557933.5:c.1935_1936insA	ENSP00000453557.1:p.Leu646ThrfsTer23
ENST00000558013.5:c.1935_1936insA	ENSP00000453346.1:p.Leu646ThrfsTer23
ENST00000558518.5:c.1935_1936insA	ENSP00000454071.1:p.Leu646ThrfsTer23
ENST00000559340.1:c.516_517insA
NM_000527.4:c.1935_1936insA , LRG_274t1:c.1935_1936insA	NP_000518.1:p.Leu646ThrfsTer23
NM_001195798.1:c.1935_1936insA	NP_001182727.1:p.Leu646ThrfsTer23
NM_001195799.1:c.1812_1813insA	NP_001182728.1:p.Leu605ThrfsTer23
NM_001195800.1:c.1431_1432insA	NP_001182729.1:p.Leu478ThrfsTer23
NM_001195803.1:c.1554_1555insA	NP_001182732.1:p.Leu519ThrfsTer20
XM_011528010.1:c.1935_1936insA	XP_011526312.1:p.Leu646ThrfsTer23
XM_011528011.1:c.1554_1555insA	XP_011526313.1:p.Leu519ThrfsTer23
XR_244074.2:n.1945_1946insA
XM_011528010.2:c.1935_1936insA	XP_011526312.1:p.Leu646ThrfsTer23
XR_001753685.2:n.2052_2053insA
XR_001753686.2:n.1912_1913insA
NM_000527.5:c.1935_1936insA MANE Select	NP_000518.1:p.Leu646ThrfsTer23
NM_001195798.2:c.1935_1936insA	NP_001182727.1:p.Leu646ThrfsTer23
NM_001195799.2:c.1812_1813insA	NP_001182728.1:p.Leu605ThrfsTer23
NM_001195800.2:c.1431_1432insA	NP_001182729.1:p.Leu478ThrfsTer23
NM_001195803.2:c.1554_1555insA	NP_001182732.1:p.Leu519ThrfsTer20