Canonical Allele Identifier: CA10585756

Gene: LDLR

Linked Data

• ClinVar Variation Id: 252202
• ClinVar RCV Id: RCV000237993
• dbSNP Id: rs879255128
• MyVariant Identifiers: chr19:g.11231121del (hg19) ; chr19:g.11120445del (hg38)
• PubMed: PMID:16250003

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120445del , CM000681.2:g.11120445del	GRCh38
NC_000019.9:g.11231121del , CM000681.1:g.11231121del	GRCh37
NC_000019.8:g.11092121del	NCBI36
NG_009060.1:g.36065del , LRG_274:g.36065del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2321del	ENSP00000252444.6:p.Asn774ThrfsTer21
ENST00000559340.2:c.*132del	ENSP00000453696.2:n.*132del
ENST00000560467.2:c.1943del	ENSP00000453513.2:p.Asn648ThrfsTer21
ENST00000558518.6:c.2063del MANE Select	ENSP00000454071.1:p.Asn688ThrfsTer21
ENST00000252444.9:c.2317del
ENST00000455727.6:c.1559del	ENSP00000397829.2:p.Asn520ThrfsTer21
ENST00000535915.5:c.1940del	ENSP00000440520.1:p.Asn647ThrfsTer21
ENST00000545707.5:c.1606+212del	ENSP00000437639.1:n.1606+212del
ENST00000557933.5:c.2063del	ENSP00000453557.1:p.Asn688ThrfsTer21
ENST00000558013.5:c.2063del	ENSP00000453346.1:p.Asn688ThrfsTer21
ENST00000558518.5:c.2063del	ENSP00000454071.1:p.Asn688ThrfsTer21
NM_000527.4:c.2063del , LRG_274t1:c.2063del	NP_000518.1:p.Asn688ThrfsTer21
NM_001195798.1:c.2063del	NP_001182727.1:p.Asn688ThrfsTer21
NM_001195799.1:c.1940del	NP_001182728.1:p.Asn647ThrfsTer21
NM_001195800.1:c.1559del	NP_001182729.1:p.Asn520ThrfsTer21
NM_001195803.1:c.1606+212del	NP_001182732.1:n.1606+212del
XM_011528010.1:c.2063del	XP_011526312.1:p.Asn688ThrfsTer21
XM_011528011.1:c.1682del	XP_011526313.1:p.Asn561ThrfsTer21
XR_244074.2:n.2073del
XM_011528010.2:c.2063del	XP_011526312.1:p.Asn688ThrfsTer21
XR_001753685.2:n.2180del
XR_001753686.2:n.2040del
NM_000527.5:c.2063del MANE Select	NP_000518.1:p.Asn688ThrfsTer21
NM_001195798.2:c.2063del	NP_001182727.1:p.Asn688ThrfsTer21
NM_001195799.2:c.1940del	NP_001182728.1:p.Asn647ThrfsTer21
NM_001195800.2:c.1559del	NP_001182729.1:p.Asn520ThrfsTer21
NM_001195803.2:c.1606+212del	NP_001182732.1:n.1606+212del