Canonical Allele Identifier: CA658799139

Gene: LDLR

Linked Data

• ClinVar Variation Id: 523735
• ClinVar RCV Id: RCV000627189
• dbSNP Id: rs1555805413
• MyVariant Identifiers: chr19:g.11224314_11224315insC (hg19) ; chr19:g.11113638_11113639insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113638_11113639insC , CM000681.2:g.11113638_11113639insC	GRCh38
NC_000019.9:g.11224314_11224315insC , CM000681.1:g.11224314_11224315insC	GRCh37
NC_000019.8:g.11085314_11085315insC	NCBI36
NG_009060.1:g.29258_29259insC , LRG_274:g.29258_29259insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1720_1721insC	ENSP00000252444.6:p.Ile574ThrfsTer?
ENST00000559340.2:c.1462_1463insC	ENSP00000453696.2:p.Ile488ThrfsTer?
ENST00000560467.2:c.1342_1343insC	ENSP00000453513.2:p.Ile448ThrfsTer?
ENST00000558518.6:c.1462_1463insC MANE Select	ENSP00000454071.1:p.Ile488ThrfsTer?
ENST00000252444.9:c.1716_1717insC
ENST00000455727.6:c.958_959insC	ENSP00000397829.2:p.Ile320ThrfsTer?
ENST00000535915.5:c.1339_1340insC	ENSP00000440520.1:p.Ile447ThrfsTer?
ENST00000545707.5:c.1081_1082insC	ENSP00000437639.1:p.Ile361ThrfsTer?
ENST00000557933.5:c.1462_1463insC	ENSP00000453557.1:p.Ile488ThrfsTer?
ENST00000558013.5:c.1462_1463insC	ENSP00000453346.1:p.Ile488ThrfsTer?
ENST00000558518.5:c.1462_1463insC	ENSP00000454071.1:p.Ile488ThrfsTer?
ENST00000559340.1:c.183_184insC
NM_000527.4:c.1462_1463insC , LRG_274t1:c.1462_1463insC	NP_000518.1:p.Ile488ThrfsTer?
NM_001195798.1:c.1462_1463insC	NP_001182727.1:p.Ile488ThrfsTer?
NM_001195799.1:c.1339_1340insC	NP_001182728.1:p.Ile447ThrfsTer?
NM_001195800.1:c.958_959insC	NP_001182729.1:p.Ile320ThrfsTer?
NM_001195803.1:c.1081_1082insC	NP_001182732.1:p.Ile361ThrfsTer?
XM_011528010.1:c.1462_1463insC	XP_011526312.1:p.Ile488ThrfsTer?
XM_011528011.1:c.1081_1082insC	XP_011526313.1:p.Ile361ThrfsTer?
XR_244074.2:n.1612_1613insC
XM_011528010.2:c.1462_1463insC	XP_011526312.1:p.Ile488ThrfsTer?
XR_001753685.2:n.1579_1580insC
XR_001753686.2:n.1579_1580insC
NM_000527.5:c.1462_1463insC MANE Select	NP_000518.1:p.Ile488ThrfsTer?
NM_001195798.2:c.1462_1463insC	NP_001182727.1:p.Ile488ThrfsTer?
NM_001195799.2:c.1339_1340insC	NP_001182728.1:p.Ile447ThrfsTer?
NM_001195800.2:c.958_959insC	NP_001182729.1:p.Ile320ThrfsTer?
NM_001195803.2:c.1081_1082insC	NP_001182732.1:p.Ile361ThrfsTer?