Canonical Allele Identifier: CA2499225324

Gene: LDLR

Linked Data

• ClinVar Variation Id: 1073362
• ClinVar RCV Id: RCV001386345
• dbSNP Id: rs2147257944

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11116977del , CM000681.2:g.11116977del	GRCh38
NC_000019.9:g.11227653del , CM000681.1:g.11227653del	GRCh37
NC_000019.8:g.11088653del	NCBI36
NG_009060.1:g.32597del , LRG_274:g.32597del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2082del	ENSP00000252444.6:p.Phe695SerfsTer?
ENST00000559340.2:c.1705+765del	ENSP00000453696.2:n.1705+765del
ENST00000560467.2:c.1704del	ENSP00000453513.2:p.Phe569SerfsTer?
ENST00000558518.6:c.1824del MANE Select	ENSP00000454071.1:p.Phe609SerfsTer?
ENST00000252444.9:c.2078del
ENST00000455727.6:c.1320del	ENSP00000397829.2:p.Phe441SerfsTer?
ENST00000535915.5:c.1701del	ENSP00000440520.1:p.Phe568SerfsTer?
ENST00000545707.5:c.1443del	ENSP00000437639.1:p.Phe482SerfsTer?
ENST00000557933.5:c.1824del	ENSP00000453557.1:p.Phe609SerfsTer?
ENST00000558013.5:c.1824del	ENSP00000453346.1:p.Phe609SerfsTer?
ENST00000558518.5:c.1824del	ENSP00000454071.1:p.Phe609SerfsTer?
ENST00000559340.1:c.426+765del
NM_000527.4:c.1824del , LRG_274t1:c.1824del	NP_000518.1:p.Phe609SerfsTer?
NM_001195798.1:c.1824del	NP_001182727.1:p.Phe609SerfsTer?
NM_001195799.1:c.1701del	NP_001182728.1:p.Phe568SerfsTer?
NM_001195800.1:c.1320del	NP_001182729.1:p.Phe441SerfsTer?
NM_001195803.1:c.1443del	NP_001182732.1:p.Phe482SerfsTer?
XM_011528010.1:c.1824del	XP_011526312.1:p.Phe609SerfsTer?
XM_011528011.1:c.1443del	XP_011526313.1:p.Phe482SerfsTer?
XR_244074.2:n.1855+765del
XM_011528010.2:c.1824del	XP_011526312.1:p.Phe609SerfsTer?
XR_001753685.2:n.1941del
XR_001753686.2:n.1822+765del
NM_000527.5:c.1824del MANE Select	NP_000518.1:p.Phe609SerfsTer?
NM_001195798.2:c.1824del	NP_001182727.1:p.Phe609SerfsTer?
NM_001195799.2:c.1701del	NP_001182728.1:p.Phe568SerfsTer?
NM_001195800.2:c.1320del	NP_001182729.1:p.Phe441SerfsTer?
NM_001195803.2:c.1443del	NP_001182732.1:p.Phe482SerfsTer?