Canonical Allele Identifier: CA645509288

Gene: LDLR

Linked Data

• ClinVar Variation Id: 440675
• ClinVar RCV Id: RCV000508750
• dbSNP Id: rs1555807390

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120432_11120445delinsC , CM000681.2:g.11120432_11120445delinsC	GRCh38
NC_000019.9:g.11231108_11231121delinsC , CM000681.1:g.11231108_11231121delinsC	GRCh37
NC_000019.8:g.11092108_11092121delinsC	NCBI36
NG_009060.1:g.36052_36065delinsC , LRG_274:g.36052_36065delinsC

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2308_2321delinsC	ENSP00000252444.6:p.Ala770ProfsTer21
ENST00000559340.2:c.*119_*132delinsC	ENSP00000453696.2:n.*119_*132delinsC
ENST00000560467.2:c.1930_1943delinsC	ENSP00000453513.2:p.Ala644ProfsTer21
ENST00000558518.6:c.2050_2063delinsC MANE Select	ENSP00000454071.1:p.Ala684ProfsTer21
ENST00000252444.9:c.2304_2317delinsC
ENST00000455727.6:c.1546_1559delinsC	ENSP00000397829.2:p.Ala516ProfsTer21
ENST00000535915.5:c.1927_1940delinsC	ENSP00000440520.1:p.Ala643ProfsTer21
ENST00000545707.5:c.1606+199_1606+212delinsC	ENSP00000437639.1:n.1606+199_1606+212deli...
ENST00000557933.5:c.2050_2063delinsC	ENSP00000453557.1:p.Ala684ProfsTer21
ENST00000558013.5:c.2050_2063delinsC	ENSP00000453346.1:p.Ala684ProfsTer21
ENST00000558518.5:c.2050_2063delinsC	ENSP00000454071.1:p.Ala684ProfsTer21
NM_000527.4:c.2050_2063delinsC , LRG_274t1:c.2050_2063delinsC	NP_000518.1:p.Ala684ProfsTer21
NM_001195798.1:c.2050_2063delinsC	NP_001182727.1:p.Ala684ProfsTer21
NM_001195799.1:c.1927_1940delinsC	NP_001182728.1:p.Ala643ProfsTer21
NM_001195800.1:c.1546_1559delinsC	NP_001182729.1:p.Ala516ProfsTer21
NM_001195803.1:c.1606+199_1606+212delinsC	NP_001182732.1:n.1606+199_1606+212delinsC...
XM_011528010.1:c.2050_2063delinsC	XP_011526312.1:p.Ala684ProfsTer21
XM_011528011.1:c.1669_1682delinsC	XP_011526313.1:p.Ala557ProfsTer21
XR_244074.2:n.2060_2073delinsC
XM_011528010.2:c.2050_2063delinsC	XP_011526312.1:p.Ala684ProfsTer21
XR_001753685.2:n.2167_2180delinsC
XR_001753686.2:n.2027_2040delinsC
NM_000527.5:c.2050_2063delinsC MANE Select	NP_000518.1:p.Ala684ProfsTer21
NM_001195798.2:c.2050_2063delinsC	NP_001182727.1:p.Ala684ProfsTer21
NM_001195799.2:c.1927_1940delinsC	NP_001182728.1:p.Ala643ProfsTer21
NM_001195800.2:c.1546_1559delinsC	NP_001182729.1:p.Ala516ProfsTer21
NM_001195803.2:c.1606+199_1606+212delinsC	NP_001182732.1:n.1606+199_1606+212delinsC...