Canonical Allele Identifier: CA2697556252

Gene: LDLR

Linked Data

• ClinVar Variation Id: 2725110
• ClinVar RCV Id: RCV003581171

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105386_11105398del , CM000681.2:g.11105386_11105398del	GRCh38
NC_000019.9:g.11216062_11216074del , CM000681.1:g.11216062_11216074del	GRCh37
NC_000019.8:g.11077062_11077074del	NCBI36
NG_009060.1:g.21006_21018del , LRG_274:g.21006_21018del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.738_750del	ENSP00000252444.6:p.Ile247GlyfsTer?
ENST00000559340.2:c.480_492del	ENSP00000453696.2:p.Ile161GlyfsTer?
ENST00000560467.2:c.480_492del	ENSP00000453513.2:p.Ile161GlyfsTer?
ENST00000558518.6:c.480_492del MANE Select	ENSP00000454071.1:p.Ile161GlyfsTer?
ENST00000252444.9:c.734_746del
ENST00000455727.6:c.314-2006_314-1994del	ENSP00000397829.2:n.314-2006_314-1994del
ENST00000535915.5:c.357_369del	ENSP00000440520.1:p.Ile120GlyfsTer?
ENST00000545707.5:c.314-1179_314-1167del	ENSP00000437639.1:n.314-1179_314-1167del
ENST00000557933.5:c.480_492del	ENSP00000453557.1:p.Ile161GlyfsTer?
ENST00000558013.5:c.480_492del	ENSP00000453346.1:p.Ile161GlyfsTer?
ENST00000558518.5:c.480_492del	ENSP00000454071.1:p.Ile161GlyfsTer?
ENST00000560467.1:c.80_92del
NM_000527.4:c.480_492del , LRG_274t1:c.480_492del	NP_000518.1:p.Ile161GlyfsTer?
NM_001195798.1:c.480_492del	NP_001182727.1:p.Ile161GlyfsTer?
NM_001195799.1:c.357_369del	NP_001182728.1:p.Ile120GlyfsTer?
NM_001195800.1:c.314-2006_314-1994del	NP_001182729.1:n.314-2006_314-1994del
NM_001195803.1:c.314-1179_314-1167del	NP_001182732.1:n.314-1179_314-1167del
XM_011528010.1:c.480_492del	XP_011526312.1:p.Ile161GlyfsTer?
XM_011528011.1:c.314-1179_314-1167del	XP_011526313.1:n.314-1179_314-1167del
XR_244074.2:n.630_642del
XM_011528010.2:c.480_492del	XP_011526312.1:p.Ile161GlyfsTer?
XR_001753685.2:n.597_609del
XR_001753686.2:n.597_609del
NM_000527.5:c.480_492del MANE Select	NP_000518.1:p.Ile161GlyfsTer?
NM_001195798.2:c.480_492del	NP_001182727.1:p.Ile161GlyfsTer?
NM_001195799.2:c.357_369del	NP_001182728.1:p.Ile120GlyfsTer?
NM_001195800.2:c.314-2006_314-1994del	NP_001182729.1:n.314-2006_314-1994del
NM_001195803.2:c.314-1179_314-1167del	NP_001182732.1:n.314-1179_314-1167del