Canonical Allele Identifier: CA2582473461

Gene: LDLR

Linked Data

• gnomAD v4: 19-11105339-GTGCTCACCTGTGGTCCCGCCAGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105341_11105363del , CM000681.2:g.11105341_11105363del	GRCh38
NC_000019.9:g.11216017_11216039del , CM000681.1:g.11216017_11216039del	GRCh37
NC_000019.8:g.11077017_11077039del	NCBI36
NG_009060.1:g.20961_20983del , LRG_274:g.20961_20983del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.693_715del	ENSP00000252444.6:p.Leu232ProfsTer26
ENST00000559340.2:c.435_457del	ENSP00000453696.2:p.Leu146ProfsTer26
ENST00000560467.2:c.435_457del	ENSP00000453513.2:p.Leu146ProfsTer26
ENST00000558518.6:c.435_457del MANE Select	ENSP00000454071.1:p.Leu146ProfsTer26
ENST00000252444.9:c.689_711del
ENST00000455727.6:c.314-2051_314-2029del	ENSP00000397829.2:n.314-2051_314-2029del
ENST00000535915.5:c.312_334del	ENSP00000440520.1:p.Leu105ProfsTer26
ENST00000545707.5:c.314-1224_314-1202del	ENSP00000437639.1:n.314-1224_314-1202del
ENST00000557933.5:c.435_457del	ENSP00000453557.1:p.Leu146ProfsTer26
ENST00000558013.5:c.435_457del	ENSP00000453346.1:p.Leu146ProfsTer26
ENST00000558518.5:c.435_457del	ENSP00000454071.1:p.Leu146ProfsTer26
ENST00000560467.1:c.35_57del
NM_000527.4:c.435_457del , LRG_274t1:c.435_457del	NP_000518.1:p.Leu146ProfsTer26
NM_001195798.1:c.435_457del	NP_001182727.1:p.Leu146ProfsTer26
NM_001195799.1:c.312_334del	NP_001182728.1:p.Leu105ProfsTer26
NM_001195800.1:c.314-2051_314-2029del	NP_001182729.1:n.314-2051_314-2029del
NM_001195803.1:c.314-1224_314-1202del	NP_001182732.1:n.314-1224_314-1202del
XM_011528010.1:c.435_457del	XP_011526312.1:p.Leu146ProfsTer26
XM_011528011.1:c.314-1224_314-1202del	XP_011526313.1:n.314-1224_314-1202del
XR_244074.2:n.585_607del
XM_011528010.2:c.435_457del	XP_011526312.1:p.Leu146ProfsTer26
XR_001753685.2:n.552_574del
XR_001753686.2:n.552_574del
NM_000527.5:c.435_457del MANE Select	NP_000518.1:p.Leu146ProfsTer26
NM_001195798.2:c.435_457del	NP_001182727.1:p.Leu146ProfsTer26
NM_001195799.2:c.312_334del	NP_001182728.1:p.Leu105ProfsTer26
NM_001195800.2:c.314-2051_314-2029del	NP_001182729.1:n.314-2051_314-2029del
NM_001195803.2:c.314-1224_314-1202del	NP_001182732.1:n.314-1224_314-1202del