Canonical Allele Identifier: CA2580096709

Gene: LDLR

Linked Data

• ClinVar Variation Id: 1785835
• ClinVar RCV Id: RCV002424147

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120481_11120484dup , CM000681.2:g.11120481_11120484dup	GRCh38
NC_000019.9:g.11231157_11231160dup , CM000681.1:g.11231157_11231160dup	GRCh37
NC_000019.8:g.11092157_11092160dup	NCBI36
NG_009060.1:g.36101_36104dup , LRG_274:g.36101_36104dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2357_2360dup	ENSP00000252444.6:p.Met788ArgfsTer16
ENST00000559340.2:c.*168_*171dup	ENSP00000453696.2:n.*168_*171dup
ENST00000560467.2:c.1979_1982dup	ENSP00000453513.2:p.Met662ArgfsTer16
ENST00000558518.6:c.2099_2102dup MANE Select	ENSP00000454071.1:p.Met702ArgfsTer16
ENST00000252444.9:c.2353_2356dup
ENST00000455727.6:c.1595_1598dup	ENSP00000397829.2:p.Met534ArgfsTer16
ENST00000535915.5:c.1976_1979dup	ENSP00000440520.1:p.Met661ArgfsTer16
ENST00000545707.5:c.1606+248_1606+251dup	ENSP00000437639.1:n.1606+248_1606+251dup
ENST00000557933.5:c.2099_2102dup	ENSP00000453557.1:p.Met702ArgfsTer16
ENST00000558013.5:c.2099_2102dup	ENSP00000453346.1:p.Met702ArgfsTer16
ENST00000558518.5:c.2099_2102dup	ENSP00000454071.1:p.Met702ArgfsTer16
NM_000527.4:c.2099_2102dup , LRG_274t1:c.2099_2102dup	NP_000518.1:p.Met702ArgfsTer16
NM_001195798.1:c.2099_2102dup	NP_001182727.1:p.Met702ArgfsTer16
NM_001195799.1:c.1976_1979dup	NP_001182728.1:p.Met661ArgfsTer16
NM_001195800.1:c.1595_1598dup	NP_001182729.1:p.Met534ArgfsTer16
NM_001195803.1:c.1606+248_1606+251dup	NP_001182732.1:n.1606+248_1606+251dup
XM_011528010.1:c.2099_2102dup	XP_011526312.1:p.Met702ArgfsTer16
XM_011528011.1:c.1718_1721dup	XP_011526313.1:p.Met575ArgfsTer16
XR_244074.2:n.2109_2112dup
XM_011528010.2:c.2099_2102dup	XP_011526312.1:p.Met702ArgfsTer16
XR_001753685.2:n.2216_2219dup
XR_001753686.2:n.2076_2079dup
NM_000527.5:c.2099_2102dup MANE Select	NP_000518.1:p.Met702ArgfsTer16
NM_001195798.2:c.2099_2102dup	NP_001182727.1:p.Met702ArgfsTer16
NM_001195799.2:c.1976_1979dup	NP_001182728.1:p.Met661ArgfsTer16
NM_001195800.2:c.1595_1598dup	NP_001182729.1:p.Met534ArgfsTer16
NM_001195803.2:c.1606+248_1606+251dup	NP_001182732.1:n.1606+248_1606+251dup