Canonical Allele Identifier: CA645509257

Gene: LDLR

Linked Data

• ClinVar Variation Id: 440565
• ClinVar RCV Id: RCV000508704 ; RCV001235875 ; RCV002367700
• dbSNP Id: rs1555803213
• MyVariant Identifiers: chr19:g.11215960del (hg19) ; chr19:g.11105284del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105284del , CM000681.2:g.11105284del	GRCh38
NC_000019.9:g.11215960del , CM000681.1:g.11215960del	GRCh37
NC_000019.8:g.11076960del	NCBI36
NG_009060.1:g.20904del , LRG_274:g.20904del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.636del	ENSP00000252444.6:p.Phe212LeufsTer?
ENST00000559340.2:c.378del	ENSP00000453696.2:p.Phe126LeufsTer?
ENST00000560467.2:c.378del	ENSP00000453513.2:p.Phe126LeufsTer?
ENST00000558518.6:c.378del MANE Select	ENSP00000454071.1:p.Phe126LeufsTer?
ENST00000252444.9:c.632del
ENST00000455727.6:c.314-2108del	ENSP00000397829.2:n.314-2108del
ENST00000535915.5:c.255del	ENSP00000440520.1:p.Phe85LeufsTer?
ENST00000545707.5:c.314-1281del	ENSP00000437639.1:n.314-1281del
ENST00000557933.5:c.378del	ENSP00000453557.1:p.Phe126LeufsTer?
ENST00000558013.5:c.378del	ENSP00000453346.1:p.Phe126LeufsTer?
ENST00000558518.5:c.378del	ENSP00000454071.1:p.Phe126LeufsTer?
NM_000527.4:c.378del , LRG_274t1:c.378del	NP_000518.1:p.Phe126LeufsTer?
NM_001195798.1:c.378del	NP_001182727.1:p.Phe126LeufsTer?
NM_001195799.1:c.255del	NP_001182728.1:p.Phe85LeufsTer?
NM_001195800.1:c.314-2108del	NP_001182729.1:n.314-2108del
NM_001195803.1:c.314-1281del	NP_001182732.1:n.314-1281del
XM_011528010.1:c.378del	XP_011526312.1:p.Phe126LeufsTer?
XM_011528011.1:c.314-1281del	XP_011526313.1:n.314-1281del
XR_244074.2:n.528del
XM_011528010.2:c.378del	XP_011526312.1:p.Phe126LeufsTer?
XR_001753685.2:n.495del
XR_001753686.2:n.495del
NM_000527.5:c.378del MANE Select	NP_000518.1:p.Phe126LeufsTer?
NM_001195798.2:c.378del	NP_001182727.1:p.Phe126LeufsTer?
NM_001195799.2:c.255del	NP_001182728.1:p.Phe85LeufsTer?
NM_001195800.2:c.314-2108del	NP_001182729.1:n.314-2108del
NM_001195803.2:c.314-1281del	NP_001182732.1:n.314-1281del