Canonical Allele Identifier: CA10585351

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251727
• ClinVar RCV Id: RCV002347939
• dbSNP Id: rs879254826
• gnomAD v3: 19-11113287-CCTACCTCTT-C
• gnomAD v4: 19-11113287-CCTACCTCTT-C
• MyVariant Identifiers: chr19:g.11223966_11223974del (hg19) ; chr19:g.11113290_11113298del (hg38)
• ERepo: CA10585351/MONDO:0007750/013
• PubMed: PMID:15241806

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113290_11113298del , CM000681.2:g.11113290_11113298del	GRCh38
NC_000019.9:g.11223966_11223974del , CM000681.1:g.11223966_11223974del	GRCh37
NC_000019.8:g.11084966_11084974del	NCBI36
NG_009060.1:g.28910_28918del , LRG_274:g.28910_28918del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1457_1465del	ENSP00000252444.6:p.Tyr486_Phe488del
ENST00000559340.2:c.1199_1207del	ENSP00000453696.2:p.Tyr400_Phe402del
ENST00000560467.2:c.1079_1087del	ENSP00000453513.2:p.Tyr360_Phe362del
ENST00000558518.6:c.1199_1207del MANE Select	ENSP00000454071.1:p.Tyr400_Phe402del
ENST00000252444.9:c.1453_1461del
ENST00000455727.6:c.695_703del	ENSP00000397829.2:p.Tyr232_Phe234del
ENST00000535915.5:c.1076_1084del	ENSP00000440520.1:p.Tyr359_Phe361del
ENST00000545707.5:c.818_826del	ENSP00000437639.1:p.Tyr273_Phe275del
ENST00000557933.5:c.1199_1207del	ENSP00000453557.1:p.Tyr400_Phe402del
ENST00000558013.5:c.1199_1207del	ENSP00000453346.1:p.Tyr400_Phe402del
ENST00000558518.5:c.1199_1207del	ENSP00000454071.1:p.Tyr400_Phe402del
ENST00000560173.1:n.198_206del
ENST00000560467.1:c.679_687del
NM_000527.4:c.1199_1207del , LRG_274t1:c.1199_1207del	NP_000518.1:p.Tyr400_Phe402del
NM_001195798.1:c.1199_1207del	NP_001182727.1:p.Tyr400_Phe402del
NM_001195799.1:c.1076_1084del	NP_001182728.1:p.Tyr359_Phe361del
NM_001195800.1:c.695_703del	NP_001182729.1:p.Tyr232_Phe234del
NM_001195803.1:c.818_826del	NP_001182732.1:p.Tyr273_Phe275del
XM_011528010.1:c.1199_1207del	XP_011526312.1:p.Tyr400_Phe402del
XM_011528011.1:c.818_826del	XP_011526313.1:p.Tyr273_Phe275del
XR_244074.2:n.1349_1357del
XM_011528010.2:c.1199_1207del	XP_011526312.1:p.Tyr400_Phe402del
XR_001753685.2:n.1316_1324del
XR_001753686.2:n.1316_1324del
NM_000527.5:c.1199_1207del MANE Select	NP_000518.1:p.Tyr400_Phe402del
NM_001195798.2:c.1199_1207del	NP_001182727.1:p.Tyr400_Phe402del
NM_001195799.2:c.1076_1084del	NP_001182728.1:p.Tyr359_Phe361del
NM_001195800.2:c.695_703del	NP_001182729.1:p.Tyr232_Phe234del
NM_001195803.2:c.818_826del	NP_001182732.1:p.Tyr273_Phe275del