Canonical Allele Identifier: CA2573050612

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11116888_11116890del , CM000681.2:g.11116888_11116890del	GRCh38
NC_000019.9:g.11227564_11227566del , CM000681.1:g.11227564_11227566del	GRCh37
NC_000019.8:g.11088564_11088566del	NCBI36
NG_009060.1:g.32508_32510del , LRG_274:g.32508_32510del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1993_1995del	ENSP00000252444.6:p.Asp665del
ENST00000559340.2:c.1705+676_1705+678del	ENSP00000453696.2:n.1705+676_1705+678del
ENST00000560467.2:c.1615_1617del	ENSP00000453513.2:p.Asp539del
ENST00000558518.6:c.1735_1737del MANE Select	ENSP00000454071.1:p.Asp579del
ENST00000252444.9:c.1989_1991del
ENST00000455727.6:c.1231_1233del	ENSP00000397829.2:p.Asp411del
ENST00000535915.5:c.1612_1614del	ENSP00000440520.1:p.Asp538del
ENST00000545707.5:c.1354_1356del	ENSP00000437639.1:p.Asp452del
ENST00000557933.5:c.1735_1737del	ENSP00000453557.1:p.Asp579del
ENST00000558013.5:c.1735_1737del	ENSP00000453346.1:p.Asp579del
ENST00000558518.5:c.1735_1737del	ENSP00000454071.1:p.Asp579del
ENST00000559340.1:c.426+676_426+678del
NM_000527.4:c.1735_1737del , LRG_274t1:c.1735_1737del	NP_000518.1:p.Asp579del
NM_001195798.1:c.1735_1737del	NP_001182727.1:p.Asp579del
NM_001195799.1:c.1612_1614del	NP_001182728.1:p.Asp538del
NM_001195800.1:c.1231_1233del	NP_001182729.1:p.Asp411del
NM_001195803.1:c.1354_1356del	NP_001182732.1:p.Asp452del
XM_011528010.1:c.1735_1737del	XP_011526312.1:p.Asp579del
XM_011528011.1:c.1354_1356del	XP_011526313.1:p.Asp452del
XR_244074.2:n.1855+676_1855+678del
XM_011528010.2:c.1735_1737del	XP_011526312.1:p.Asp579del
XR_001753685.2:n.1852_1854del
XR_001753686.2:n.1822+676_1822+678del
NM_000527.5:c.1735_1737del MANE Select	NP_000518.1:p.Asp579del
NM_001195798.2:c.1735_1737del	NP_001182727.1:p.Asp579del
NM_001195799.2:c.1612_1614del	NP_001182728.1:p.Asp538del
NM_001195800.2:c.1231_1233del	NP_001182729.1:p.Asp411del
NM_001195803.2:c.1354_1356del	NP_001182732.1:p.Asp452del