Canonical Allele Identifier: CA2695198129

Gene: LDLR

Linked Data

• ClinVar Variation Id: 2630476
• ClinVar RCV Id: RCV003402366

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11110671del , CM000681.2:g.11110671del	GRCh38
NC_000019.9:g.11221347del , CM000681.1:g.11221347del	GRCh37
NC_000019.8:g.11082347del	NCBI36
NG_009060.1:g.26291del , LRG_274:g.26291del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1218del	ENSP00000252444.6:p.Asp406GlufsTer?
ENST00000559340.2:c.960del	ENSP00000453696.2:p.Asp320GlufsTer?
ENST00000560467.2:c.941-843del	ENSP00000453513.2:n.941-843del
ENST00000558518.6:c.960del MANE Select	ENSP00000454071.1:p.Asp320GlufsTer?
ENST00000252444.9:c.1214del
ENST00000455727.6:c.456del	ENSP00000397829.2:p.Asp152GlufsTer?
ENST00000535915.5:c.837del	ENSP00000440520.1:p.Asp279GlufsTer?
ENST00000545707.5:c.579del	ENSP00000437639.1:p.Asp193GlufsTer?
ENST00000557933.5:c.960del	ENSP00000453557.1:p.Asp320GlufsTer?
ENST00000558013.5:c.960del	ENSP00000453346.1:p.Asp320GlufsTer?
ENST00000558518.5:c.960del	ENSP00000454071.1:p.Asp320GlufsTer?
ENST00000560467.1:c.541-843del
NM_000527.4:c.960del , LRG_274t1:c.960del	NP_000518.1:p.Asp320GlufsTer?
NM_001195798.1:c.960del	NP_001182727.1:p.Asp320GlufsTer?
NM_001195799.1:c.837del	NP_001182728.1:p.Asp279GlufsTer?
NM_001195800.1:c.456del	NP_001182729.1:p.Asp152GlufsTer?
NM_001195803.1:c.579del	NP_001182732.1:p.Asp193GlufsTer?
XM_011528010.1:c.960del	XP_011526312.1:p.Asp320GlufsTer?
XM_011528011.1:c.579del	XP_011526313.1:p.Asp193GlufsTer?
XR_244074.2:n.1110del
XM_011528010.2:c.960del	XP_011526312.1:p.Asp320GlufsTer?
XR_001753685.2:n.1077del
XR_001753686.2:n.1077del
NM_000527.5:c.960del MANE Select	NP_000518.1:p.Asp320GlufsTer?
NM_001195798.2:c.960del	NP_001182727.1:p.Asp320GlufsTer?
NM_001195799.2:c.837del	NP_001182728.1:p.Asp279GlufsTer?
NM_001195800.2:c.456del	NP_001182729.1:p.Asp152GlufsTer?
NM_001195803.2:c.579del	NP_001182732.1:p.Asp193GlufsTer?