Canonical Allele Identifier: CA10585761

Gene: LDLR

Linked Data

• ClinVar Variation Id: 252207
• ClinVar RCV Id: RCV000237477
• dbSNP Id: rs879255131
• MyVariant Identifiers: chr19:g.11231135_11231136del (hg19) ; chr19:g.11120459_11120460del (hg38)
• PubMed: PMID:16250003 ; PMID:17765246

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120459_11120460del , CM000681.2:g.11120459_11120460del	GRCh38
NC_000019.9:g.11231135_11231136del , CM000681.1:g.11231135_11231136del	GRCh37
NC_000019.8:g.11092135_11092136del	NCBI36
NG_009060.1:g.36079_36080del , LRG_274:g.36079_36080del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2335_2336del	ENSP00000252444.6:p.Lys779ValfsTer23
ENST00000559340.2:c.*146_*147del	ENSP00000453696.2:n.*146_*147del
ENST00000560467.2:c.1957_1958del	ENSP00000453513.2:p.Lys653ValfsTer23
ENST00000558518.6:c.2077_2078del MANE Select	ENSP00000454071.1:p.Lys693ValfsTer23
ENST00000252444.9:c.2331_2332del
ENST00000455727.6:c.1573_1574del	ENSP00000397829.2:p.Lys525ValfsTer23
ENST00000535915.5:c.1954_1955del	ENSP00000440520.1:p.Lys652ValfsTer23
ENST00000545707.5:c.1606+226_1606+227del	ENSP00000437639.1:n.1606+226_1606+227del
ENST00000557933.5:c.2077_2078del	ENSP00000453557.1:p.Lys693ValfsTer23
ENST00000558013.5:c.2077_2078del	ENSP00000453346.1:p.Lys693ValfsTer23
ENST00000558518.5:c.2077_2078del	ENSP00000454071.1:p.Lys693ValfsTer23
NM_000527.4:c.2077_2078del , LRG_274t1:c.2077_2078del	NP_000518.1:p.Lys693ValfsTer23
NM_001195798.1:c.2077_2078del	NP_001182727.1:p.Lys693ValfsTer23
NM_001195799.1:c.1954_1955del	NP_001182728.1:p.Lys652ValfsTer23
NM_001195800.1:c.1573_1574del	NP_001182729.1:p.Lys525ValfsTer23
NM_001195803.1:c.1606+226_1606+227del	NP_001182732.1:n.1606+226_1606+227del
XM_011528010.1:c.2077_2078del	XP_011526312.1:p.Lys693ValfsTer23
XM_011528011.1:c.1696_1697del	XP_011526313.1:p.Lys566ValfsTer23
XR_244074.2:n.2087_2088del
XM_011528010.2:c.2077_2078del	XP_011526312.1:p.Lys693ValfsTer23
XR_001753685.2:n.2194_2195del
XR_001753686.2:n.2054_2055del
NM_000527.5:c.2077_2078del MANE Select	NP_000518.1:p.Lys693ValfsTer23
NM_001195798.2:c.2077_2078del	NP_001182727.1:p.Lys693ValfsTer23
NM_001195799.2:c.1954_1955del	NP_001182728.1:p.Lys652ValfsTer23
NM_001195800.2:c.1573_1574del	NP_001182729.1:p.Lys525ValfsTer23
NM_001195803.2:c.1606+226_1606+227del	NP_001182732.1:n.1606+226_1606+227del