Canonical Allele Identifier: CA10576293

Gene: LDLR

Linked Data

• ClinVar Variation Id: 226338
• ClinVar RCV Id: RCV000211591 ; RCV000493281 ; RCV001804946 ; RCV003407738 ; RCV002372216
• dbSNP Id: rs875989910
• MyVariant Identifiers: chr19:g.11218188_11218189delinsAT (hg19) ; chr19:g.11107512_11107513delinsAT (hg38)
• PubMed: PMID:9698020

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11107512_11107513delinsAT , CM000681.2:g.11107512_11107513delinsAT	GRCh38
NC_000019.9:g.11218188_11218189delinsAT , CM000681.1:g.11218188_11218189delinsAT	GRCh37
NC_000019.8:g.11079188_11079189delinsAT	NCBI36
NG_009060.1:g.23132_23133delinsAT , LRG_274:g.23132_23133delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1196_1197delinsAT	ENSP00000252444.6:p.Cys399Tyr
ENST00000559340.2:c.938_939delinsAT	ENSP00000453696.2:p.Cys313Tyr
ENST00000560467.2:c.938_939delinsAT	ENSP00000453513.2:p.Cys313Tyr
ENST00000558518.6:c.938_939delinsAT MANE Select	ENSP00000454071.1:p.Cys313Tyr
ENST00000252444.9:c.1192_1193delinsAT
ENST00000455727.6:c.434_435delinsAT	ENSP00000397829.2:p.Cys145Tyr
ENST00000535915.5:c.815_816delinsAT	ENSP00000440520.1:p.Cys272Tyr
ENST00000545707.5:c.557_558delinsAT	ENSP00000437639.1:p.Cys186Tyr
ENST00000557933.5:c.938_939delinsAT	ENSP00000453557.1:p.Cys313Tyr
ENST00000558013.5:c.938_939delinsAT	ENSP00000453346.1:p.Cys313Tyr
ENST00000558518.5:c.938_939delinsAT	ENSP00000454071.1:p.Cys313Tyr
ENST00000558528.1:n.453_454delinsAT
ENST00000560467.1:c.538_539delinsAT
NM_000527.4:c.938_939delinsAT , LRG_274t1:c.938_939delinsAT	NP_000518.1:p.Cys313Tyr
NM_001195798.1:c.938_939delinsAT	NP_001182727.1:p.Cys313Tyr
NM_001195799.1:c.815_816delinsAT	NP_001182728.1:p.Cys272Tyr
NM_001195800.1:c.434_435delinsAT	NP_001182729.1:p.Cys145Tyr
NM_001195803.1:c.557_558delinsAT	NP_001182732.1:p.Cys186Tyr
XM_011528010.1:c.938_939delinsAT	XP_011526312.1:p.Cys313Tyr
XM_011528011.1:c.557_558delinsAT	XP_011526313.1:p.Cys186Tyr
XR_244074.2:n.1088_1089delinsAT
XM_011528010.2:c.938_939delinsAT	XP_011526312.1:p.Cys313Tyr
XR_001753685.2:n.1055_1056delinsAT
XR_001753686.2:n.1055_1056delinsAT
NM_000527.5:c.938_939delinsAT MANE Select	NP_000518.1:p.Cys313Tyr
NM_001195798.2:c.938_939delinsAT	NP_001182727.1:p.Cys313Tyr
NM_001195799.2:c.815_816delinsAT	NP_001182728.1:p.Cys272Tyr
NM_001195800.2:c.434_435delinsAT	NP_001182729.1:p.Cys145Tyr
NM_001195803.2:c.557_558delinsAT	NP_001182732.1:p.Cys186Tyr