Canonical Allele Identifier: CA645373258

Gene: LDLR

Linked Data

• ClinVar Variation Id: 430793
• ClinVar RCV Id: RCV000495922
• dbSNP Id: rs1131692221
• MyVariant Identifiers: chr19:g.11231119del (hg19) ; chr19:g.11120443del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120443del , CM000681.2:g.11120443del	GRCh38
NC_000019.9:g.11231119del , CM000681.1:g.11231119del	GRCh37
NC_000019.8:g.11092119del	NCBI36
NG_009060.1:g.36063del , LRG_274:g.36063del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2319del	ENSP00000252444.6:p.Asn774ThrfsTer21
ENST00000559340.2:c.*130del	ENSP00000453696.2:n.*130del
ENST00000560467.2:c.1941del	ENSP00000453513.2:p.Asn648ThrfsTer21
ENST00000558518.6:c.2061del MANE Select	ENSP00000454071.1:p.Asn688ThrfsTer21
ENST00000252444.9:c.2315del
ENST00000455727.6:c.1557del	ENSP00000397829.2:p.Asn520ThrfsTer21
ENST00000535915.5:c.1938del	ENSP00000440520.1:p.Asn647ThrfsTer21
ENST00000545707.5:c.1606+210del	ENSP00000437639.1:n.1606+210del
ENST00000557933.5:c.2061del	ENSP00000453557.1:p.Asn688ThrfsTer21
ENST00000558013.5:c.2061del	ENSP00000453346.1:p.Asn688ThrfsTer21
ENST00000558518.5:c.2061del	ENSP00000454071.1:p.Asn688ThrfsTer21
NM_000527.4:c.2061del , LRG_274t1:c.2061del	NP_000518.1:p.Asn688ThrfsTer21
NM_001195798.1:c.2061del	NP_001182727.1:p.Asn688ThrfsTer21
NM_001195799.1:c.1938del	NP_001182728.1:p.Asn647ThrfsTer21
NM_001195800.1:c.1557del	NP_001182729.1:p.Asn520ThrfsTer21
NM_001195803.1:c.1606+210del	NP_001182732.1:n.1606+210del
XM_011528010.1:c.2061del	XP_011526312.1:p.Asn688ThrfsTer21
XM_011528011.1:c.1680del	XP_011526313.1:p.Asn561ThrfsTer21
XR_244074.2:n.2071del
XM_011528010.2:c.2061del	XP_011526312.1:p.Asn688ThrfsTer21
XR_001753685.2:n.2178del
XR_001753686.2:n.2038del
NM_000527.5:c.2061del MANE Select	NP_000518.1:p.Asn688ThrfsTer21
NM_001195798.2:c.2061del	NP_001182727.1:p.Asn688ThrfsTer21
NM_001195799.2:c.1938del	NP_001182728.1:p.Asn647ThrfsTer21
NM_001195800.2:c.1557del	NP_001182729.1:p.Asn520ThrfsTer21
NM_001195803.2:c.1606+210del	NP_001182732.1:n.1606+210del