Canonical Allele Identifier: CA645509264

Gene: LDLR

Linked Data

• ClinVar Variation Id: 440593
• ClinVar RCV Id: RCV000508727
• dbSNP Id: rs1555803449
• MyVariant Identifiers: chr19:g.11216251_11216258del (hg19) ; chr19:g.11105575_11105582del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105575_11105582del , CM000681.2:g.11105575_11105582del	GRCh38
NC_000019.9:g.11216251_11216258del , CM000681.1:g.11216251_11216258del	GRCh37
NC_000019.8:g.11077251_11077258del	NCBI36
NG_009060.1:g.21195_21202del , LRG_274:g.21195_21202del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.927_934del	ENSP00000252444.6:p.Lys309AsnfsTer2
ENST00000559340.2:c.669_676del	ENSP00000453696.2:p.Lys223AsnfsTer2
ENST00000560467.2:c.669_676del	ENSP00000453513.2:p.Lys223AsnfsTer2
ENST00000558518.6:c.669_676del MANE Select	ENSP00000454071.1:p.Lys223AsnfsTer2
ENST00000252444.9:c.923_930del
ENST00000455727.6:c.314-1817_314-1810del	ENSP00000397829.2:n.314-1817_314-1810del
ENST00000535915.5:c.546_553del	ENSP00000440520.1:p.Lys182AsnfsTer2
ENST00000545707.5:c.314-990_314-983del	ENSP00000437639.1:n.314-990_314-983del
ENST00000557933.5:c.669_676del	ENSP00000453557.1:p.Lys223AsnfsTer2
ENST00000558013.5:c.669_676del	ENSP00000453346.1:p.Lys223AsnfsTer2
ENST00000558518.5:c.669_676del	ENSP00000454071.1:p.Lys223AsnfsTer2
ENST00000560467.1:c.269_276del
NM_000527.4:c.669_676del , LRG_274t1:c.669_676del	NP_000518.1:p.Lys223AsnfsTer2
NM_001195798.1:c.669_676del	NP_001182727.1:p.Lys223AsnfsTer2
NM_001195799.1:c.546_553del	NP_001182728.1:p.Lys182AsnfsTer2
NM_001195800.1:c.314-1817_314-1810del	NP_001182729.1:n.314-1817_314-1810del
NM_001195803.1:c.314-990_314-983del	NP_001182732.1:n.314-990_314-983del
XM_011528010.1:c.669_676del	XP_011526312.1:p.Lys223AsnfsTer2
XM_011528011.1:c.314-990_314-983del	XP_011526313.1:n.314-990_314-983del
XR_244074.2:n.819_826del
XM_011528010.2:c.669_676del	XP_011526312.1:p.Lys223AsnfsTer2
XR_001753685.2:n.786_793del
XR_001753686.2:n.786_793del
NM_000527.5:c.669_676del MANE Select	NP_000518.1:p.Lys223AsnfsTer2
NM_001195798.2:c.669_676del	NP_001182727.1:p.Lys223AsnfsTer2
NM_001195799.2:c.546_553del	NP_001182728.1:p.Lys182AsnfsTer2
NM_001195800.2:c.314-1817_314-1810del	NP_001182729.1:n.314-1817_314-1810del
NM_001195803.2:c.314-990_314-983del	NP_001182732.1:n.314-990_314-983del