Canonical Allele Identifier: CA10585356

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251731
• ClinVar RCV Id: RCV000237531
• dbSNP Id: rs879254830
• gnomAD v4: 19-11113292-CTCT-C
• MyVariant Identifiers: chr19:g.11223974_11223976del (hg19) ; chr19:g.11113298_11113300del (hg38)
• PubMed: PMID:11462246 ; PMID:21310417 ; PMID:22698793 ; PMID:23375686

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113298_11113300del , CM000681.2:g.11113298_11113300del	GRCh38
NC_000019.9:g.11223974_11223976del , CM000681.1:g.11223974_11223976del	GRCh37
NC_000019.8:g.11084974_11084976del	NCBI36
NG_009060.1:g.28918_28920del , LRG_274:g.28918_28920del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1465_1467del	ENSP00000252444.6:p.Phe489del
ENST00000559340.2:c.1207_1209del	ENSP00000453696.2:p.Phe403del
ENST00000560467.2:c.1087_1089del	ENSP00000453513.2:p.Phe363del
ENST00000558518.6:c.1207_1209del MANE Select	ENSP00000454071.1:p.Phe403del
ENST00000252444.9:c.1461_1463del
ENST00000455727.6:c.703_705del	ENSP00000397829.2:p.Phe235del
ENST00000535915.5:c.1084_1086del	ENSP00000440520.1:p.Phe362del
ENST00000545707.5:c.826_828del	ENSP00000437639.1:p.Phe276del
ENST00000557933.5:c.1207_1209del	ENSP00000453557.1:p.Phe403del
ENST00000558013.5:c.1207_1209del	ENSP00000453346.1:p.Phe403del
ENST00000558518.5:c.1207_1209del	ENSP00000454071.1:p.Phe403del
ENST00000560173.1:n.206_208del
ENST00000560467.1:c.687_689del
NM_000527.4:c.1207_1209del , LRG_274t1:c.1207_1209del	NP_000518.1:p.Phe403del
NM_001195798.1:c.1207_1209del	NP_001182727.1:p.Phe403del
NM_001195799.1:c.1084_1086del	NP_001182728.1:p.Phe362del
NM_001195800.1:c.703_705del	NP_001182729.1:p.Phe235del
NM_001195803.1:c.826_828del	NP_001182732.1:p.Phe276del
XM_011528010.1:c.1207_1209del	XP_011526312.1:p.Phe403del
XM_011528011.1:c.826_828del	XP_011526313.1:p.Phe276del
XR_244074.2:n.1357_1359del
XM_011528010.2:c.1207_1209del	XP_011526312.1:p.Phe403del
XR_001753685.2:n.1324_1326del
XR_001753686.2:n.1324_1326del
NM_000527.5:c.1207_1209del MANE Select	NP_000518.1:p.Phe403del
NM_001195798.2:c.1207_1209del	NP_001182727.1:p.Phe403del
NM_001195799.2:c.1084_1086del	NP_001182728.1:p.Phe362del
NM_001195800.2:c.703_705del	NP_001182729.1:p.Phe235del
NM_001195803.2:c.826_828del	NP_001182732.1:p.Phe276del