Canonical Allele Identifier: CA2580096350

Gene: LDLR

Linked Data

• ClinVar Variation Id: 1782873
• ClinVar RCV Id: RCV002410906

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11102666_11102675delinsGGACTTCA , CM000681.2:g.11102666_11102675delinsGGACTTCA	GRCh38
NC_000019.9:g.11213342_11213351delinsGGACTTCA , CM000681.1:g.11213342_11213351delinsGGACTTCA	GRCh37
NC_000019.8:g.11074342_11074351delinsGGACTTCA	NCBI36
NG_009060.1:g.18286_18295delinsGGACTTCA , LRG_274:g.18286_18295delinsGGACTTCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.451_460delinsGGACTTCA	ENSP00000252444.6:p.Ser151GlyfsTer?
ENST00000559340.2:c.193_202delinsGGACTTCA	ENSP00000453696.2:p.Ser65GlyfsTer?
ENST00000560467.2:c.193_202delinsGGACTTCA	ENSP00000453513.2:p.Ser65GlyfsTer?
ENST00000558518.6:c.193_202delinsGGACTTCA MANE Select	ENSP00000454071.1:p.Ser65GlyfsTer?
ENST00000252444.9:c.447_456delinsGGACTTCA
ENST00000455727.6:c.193_202delinsGGACTTCA	ENSP00000397829.2:p.Ser65GlyfsTer?
ENST00000535915.5:c.190+2321_190+2330delinsGGACTTCA	ENSP00000440520.1:n.190+2321_190+2330delinsGGACTTCA
ENST00000545707.5:c.193_202delinsGGACTTCA	ENSP00000437639.1:p.Ser65GlyfsTer?
ENST00000557933.5:c.193_202delinsGGACTTCA	ENSP00000453557.1:p.Ser65GlyfsTer?
ENST00000557958.1:n.279_288delinsGGACTTCA
ENST00000558013.5:c.193_202delinsGGACTTCA	ENSP00000453346.1:p.Ser65GlyfsTer?
ENST00000558518.5:c.193_202delinsGGACTTCA	ENSP00000454071.1:p.Ser65GlyfsTer?
NM_000527.4:c.193_202delinsGGACTTCA , LRG_274t1:c.193_202delinsGGACTTCA	NP_000518.1:p.Ser65GlyfsTer?
NM_001195798.1:c.193_202delinsGGACTTCA	NP_001182727.1:p.Ser65GlyfsTer?
NM_001195799.1:c.190+2321_190+2330delinsGGACTTCA	NP_001182728.1:n.190+2321_190+2330delinsGGACTTCA
NM_001195800.1:c.193_202delinsGGACTTCA	NP_001182729.1:p.Ser65GlyfsTer?
NM_001195803.1:c.193_202delinsGGACTTCA	NP_001182732.1:p.Ser65GlyfsTer?
XM_011528010.1:c.193_202delinsGGACTTCA	XP_011526312.1:p.Ser65GlyfsTer?
XM_011528011.1:c.193_202delinsGGACTTCA	XP_011526313.1:p.Ser65GlyfsTer?
XR_244074.2:n.343_352delinsGGACTTCA
XM_011528010.2:c.193_202delinsGGACTTCA	XP_011526312.1:p.Ser65GlyfsTer?
XR_001753685.2:n.310_319delinsGGACTTCA
XR_001753686.2:n.310_319delinsGGACTTCA
NM_000527.5:c.193_202delinsGGACTTCA MANE Select	NP_000518.1:p.Ser65GlyfsTer?
NM_001195798.2:c.193_202delinsGGACTTCA	NP_001182727.1:p.Ser65GlyfsTer?
NM_001195799.2:c.190+2321_190+2330delinsGGACTTCA	NP_001182728.1:n.190+2321_190+2330delinsGGACTTCA
NM_001195800.2:c.193_202delinsGGACTTCA	NP_001182729.1:p.Ser65GlyfsTer?
NM_001195803.2:c.193_202delinsGGACTTCA	NP_001182732.1:p.Ser65GlyfsTer?