Canonical Allele Identifier: CA029718

Gene: LDLR

Linked Data

• ClinVar Variation Id: 369863
• ClinVar RCV Id: RCV000408879 ; RCV000598567 ; RCV000775050
• dbSNP Id: rs751122998
• ExAC: 19:11218069 GA / G
• gnomAD v2: 19-11218069-GA-G
• gnomAD v3: 19-11107393-GA-G
• gnomAD v4: 19-11107393-GA-G
• MyVariant Identifiers: chr19:g.11218070del (hg19) ; chr19:g.11107394del (hg38)
• PubMed: PMID:27765764

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11107394del , CM000681.2:g.11107394del	GRCh38
NC_000019.9:g.11218070del , CM000681.1:g.11218070del	GRCh37
NC_000019.8:g.11079070del	NCBI36
NG_009060.1:g.23014del , LRG_274:g.23014del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1078del	ENSP00000252444.6:p.Thr360HisfsTer?
ENST00000559340.2:c.820del	ENSP00000453696.2:p.Thr274HisfsTer?
ENST00000560467.2:c.820del	ENSP00000453513.2:p.Thr274HisfsTer?
ENST00000558518.6:c.820del MANE Select	ENSP00000454071.1:p.Thr274HisfsTer?
ENST00000252444.9:c.1074del
ENST00000455727.6:c.316del	ENSP00000397829.2:p.Thr106HisfsTer?
ENST00000535915.5:c.697del	ENSP00000440520.1:p.Thr233HisfsTer?
ENST00000545707.5:c.439del	ENSP00000437639.1:p.Thr147HisfsTer?
ENST00000557933.5:c.820del	ENSP00000453557.1:p.Thr274HisfsTer?
ENST00000558013.5:c.820del	ENSP00000453346.1:p.Thr274HisfsTer?
ENST00000558518.5:c.820del	ENSP00000454071.1:p.Thr274HisfsTer?
ENST00000558528.1:n.335del
ENST00000560467.1:c.420del
NM_000527.4:c.820del , LRG_274t1:c.820del	NP_000518.1:p.Thr274HisfsTer?
NM_001195798.1:c.820del	NP_001182727.1:p.Thr274HisfsTer?
NM_001195799.1:c.697del	NP_001182728.1:p.Thr233HisfsTer?
NM_001195800.1:c.316del	NP_001182729.1:p.Thr106HisfsTer?
NM_001195803.1:c.439del	NP_001182732.1:p.Thr147HisfsTer?
XM_011528010.1:c.820del	XP_011526312.1:p.Thr274HisfsTer?
XM_011528011.1:c.439del	XP_011526313.1:p.Thr147HisfsTer?
XR_244074.2:n.970del
XM_011528010.2:c.820del	XP_011526312.1:p.Thr274HisfsTer?
XR_001753685.2:n.937del
XR_001753686.2:n.937del
NM_000527.5:c.820del MANE Select	NP_000518.1:p.Thr274HisfsTer?
NM_001195798.2:c.820del	NP_001182727.1:p.Thr274HisfsTer?
NM_001195799.2:c.697del	NP_001182728.1:p.Thr233HisfsTer?
NM_001195800.2:c.316del	NP_001182729.1:p.Thr106HisfsTer?
NM_001195803.2:c.439del	NP_001182732.1:p.Thr147HisfsTer?