Canonical Allele Identifier: CA16602305

Gene: LDLR

Linked Data

• ClinVar Variation Id: 375788
• ClinVar RCV Id: RCV000417271
• dbSNP Id: rs387906306
• MyVariant Identifiers: chr19:g.11216246_11216263del (hg19) ; chr19:g.11105570_11105587del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105570_11105587del , CM000681.2:g.11105570_11105587del	GRCh38
NC_000019.9:g.11216246_11216263del , CM000681.1:g.11216246_11216263del	GRCh37
NC_000019.8:g.11077246_11077263del	NCBI36
NG_009060.1:g.21190_21207del , LRG_274:g.21190_21207del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.922_939del	ENSP00000252444.6:p.Cys308_Asp313del
ENST00000559340.2:c.664_681del	ENSP00000453696.2:p.Cys222_Asp227del
ENST00000560467.2:c.664_681del	ENSP00000453513.2:p.Cys222_Asp227del
ENST00000558518.6:c.664_681del MANE Select	ENSP00000454071.1:p.Cys222_Asp227del
ENST00000252444.9:c.918_935del
ENST00000455727.6:c.314-1822_314-1805del	ENSP00000397829.2:n.314-1822_314-1805del
ENST00000535915.5:c.541_558del	ENSP00000440520.1:p.Cys181_Asp186del
ENST00000545707.5:c.314-995_314-978del	ENSP00000437639.1:n.314-995_314-978del
ENST00000557933.5:c.664_681del	ENSP00000453557.1:p.Cys222_Asp227del
ENST00000558013.5:c.664_681del	ENSP00000453346.1:p.Cys222_Asp227del
ENST00000558518.5:c.664_681del	ENSP00000454071.1:p.Cys222_Asp227del
ENST00000560467.1:c.264_281del
NM_000527.4:c.664_681del , LRG_274t1:c.664_681del	NP_000518.1:p.Cys222_Asp227del
NM_001195798.1:c.664_681del	NP_001182727.1:p.Cys222_Asp227del
NM_001195799.1:c.541_558del	NP_001182728.1:p.Cys181_Asp186del
NM_001195800.1:c.314-1822_314-1805del	NP_001182729.1:n.314-1822_314-1805del
NM_001195803.1:c.314-995_314-978del	NP_001182732.1:n.314-995_314-978del
XM_011528010.1:c.664_681del	XP_011526312.1:p.Cys222_Asp227del
XM_011528011.1:c.314-995_314-978del	XP_011526313.1:n.314-995_314-978del
XR_244074.2:n.814_831del
XM_011528010.2:c.664_681del	XP_011526312.1:p.Cys222_Asp227del
XR_001753685.2:n.781_798del
XR_001753686.2:n.781_798del
NM_000527.5:c.664_681del MANE Select	NP_000518.1:p.Cys222_Asp227del
NM_001195798.2:c.664_681del	NP_001182727.1:p.Cys222_Asp227del
NM_001195799.2:c.541_558del	NP_001182728.1:p.Cys181_Asp186del
NM_001195800.2:c.314-1822_314-1805del	NP_001182729.1:n.314-1822_314-1805del
NM_001195803.2:c.314-995_314-978del	NP_001182732.1:n.314-995_314-978del