Canonical Allele Identifier: CA2580096431

Gene: LDLR

Linked Data

• ClinVar Variation Id: 2498754
• ClinVar RCV Id: RCV003222963

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105288del , CM000681.2:g.11105288del	GRCh38
NC_000019.9:g.11215964del , CM000681.1:g.11215964del	GRCh37
NC_000019.8:g.11076964del	NCBI36
NG_009060.1:g.20908del , LRG_274:g.20908del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.640del	ENSP00000252444.6:p.Cys214ValfsTer?
ENST00000559340.2:c.382del	ENSP00000453696.2:p.Cys128ValfsTer?
ENST00000560467.2:c.382del	ENSP00000453513.2:p.Cys128ValfsTer?
ENST00000558518.6:c.382del MANE Select	ENSP00000454071.1:p.Cys128ValfsTer?
ENST00000252444.9:c.636del
ENST00000455727.6:c.314-2104del	ENSP00000397829.2:n.314-2104del
ENST00000535915.5:c.259del	ENSP00000440520.1:p.Cys87ValfsTer?
ENST00000545707.5:c.314-1277del	ENSP00000437639.1:n.314-1277del
ENST00000557933.5:c.382del	ENSP00000453557.1:p.Cys128ValfsTer?
ENST00000558013.5:c.382del	ENSP00000453346.1:p.Cys128ValfsTer?
ENST00000558518.5:c.382del	ENSP00000454071.1:p.Cys128ValfsTer?
NM_000527.4:c.382del , LRG_274t1:c.382del	NP_000518.1:p.Cys128ValfsTer?
NM_001195798.1:c.382del	NP_001182727.1:p.Cys128ValfsTer?
NM_001195799.1:c.259del	NP_001182728.1:p.Cys87ValfsTer?
NM_001195800.1:c.314-2104del	NP_001182729.1:n.314-2104del
NM_001195803.1:c.314-1277del	NP_001182732.1:n.314-1277del
XM_011528010.1:c.382del	XP_011526312.1:p.Cys128ValfsTer?
XM_011528011.1:c.314-1277del	XP_011526313.1:n.314-1277del
XR_244074.2:n.532del
XM_011528010.2:c.382del	XP_011526312.1:p.Cys128ValfsTer?
XR_001753685.2:n.499del
XR_001753686.2:n.499del
NM_000527.5:c.382del MANE Select	NP_000518.1:p.Cys128ValfsTer?
NM_001195798.2:c.382del	NP_001182727.1:p.Cys128ValfsTer?
NM_001195799.2:c.259del	NP_001182728.1:p.Cys87ValfsTer?
NM_001195800.2:c.314-2104del	NP_001182729.1:n.314-2104del
NM_001195803.2:c.314-1277del	NP_001182732.1:n.314-1277del