Canonical Allele Identifier: CA16609807

Gene: LDLR

Linked Data

• ClinVar Variation Id: 403633
• ClinVar RCV Id: RCV000454717 ; RCV002230305 ; RCV002365581
• dbSNP Id: rs1064792905
• MyVariant Identifiers: chr19:g.11216265_11216276del (hg19) ; chr19:g.11105589_11105600del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105589_11105600del , CM000681.2:g.11105589_11105600del	GRCh38
NC_000019.9:g.11216265_11216276del , CM000681.1:g.11216265_11216276del	GRCh37
NC_000019.8:g.11077265_11077276del	NCBI36
NG_009060.1:g.21209_21220del , LRG_274:g.21209_21220del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.941_952del	ENSP00000252444.6:p.Glu314_Cys317del
ENST00000559340.2:c.683_694del	ENSP00000453696.2:p.Glu228_Cys231del
ENST00000560467.2:c.683_694del	ENSP00000453513.2:p.Glu228_Cys231del
ENST00000558518.6:c.683_694del MANE Select	ENSP00000454071.1:p.Glu228_Cys231del
ENST00000252444.9:c.937_948del
ENST00000455727.6:c.314-1803_314-1792del	ENSP00000397829.2:n.314-1803_314-1792del
ENST00000535915.5:c.560_571del	ENSP00000440520.1:p.Glu187_Cys190del
ENST00000545707.5:c.314-976_314-965del	ENSP00000437639.1:n.314-976_314-965del
ENST00000557933.5:c.683_694del	ENSP00000453557.1:p.Glu228_Cys231del
ENST00000558013.5:c.683_694del	ENSP00000453346.1:p.Glu228_Cys231del
ENST00000558518.5:c.683_694del	ENSP00000454071.1:p.Glu228_Cys231del
ENST00000560467.1:c.283_294del
NM_000527.4:c.683_694del , LRG_274t1:c.683_694del	NP_000518.1:p.Glu228_Cys231del
NM_001195798.1:c.683_694del	NP_001182727.1:p.Glu228_Cys231del
NM_001195799.1:c.560_571del	NP_001182728.1:p.Glu187_Cys190del
NM_001195800.1:c.314-1803_314-1792del	NP_001182729.1:n.314-1803_314-1792del
NM_001195803.1:c.314-976_314-965del	NP_001182732.1:n.314-976_314-965del
XM_011528010.1:c.683_694del	XP_011526312.1:p.Glu228_Cys231del
XM_011528011.1:c.314-976_314-965del	XP_011526313.1:n.314-976_314-965del
XR_244074.2:n.833_844del
XM_011528010.2:c.683_694del	XP_011526312.1:p.Glu228_Cys231del
XR_001753685.2:n.800_811del
XR_001753686.2:n.800_811del
NM_000527.5:c.683_694del MANE Select	NP_000518.1:p.Glu228_Cys231del
NM_001195798.2:c.683_694del	NP_001182727.1:p.Glu228_Cys231del
NM_001195799.2:c.560_571del	NP_001182728.1:p.Glu187_Cys190del
NM_001195800.2:c.314-1803_314-1792del	NP_001182729.1:n.314-1803_314-1792del
NM_001195803.2:c.314-976_314-965del	NP_001182732.1:n.314-976_314-965del