Canonical Allele Identifier: CA2573155719

Gene: LDLR

Linked Data

• ClinVar Variation Id: 1488124
• ClinVar RCV Id: RCV001988421
• dbSNP Id: rs2147217534

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11102789_11102792del , CM000681.2:g.11102789_11102792del	GRCh38
NC_000019.9:g.11213465_11213468del , CM000681.1:g.11213465_11213468del	GRCh37
NC_000019.8:g.11074465_11074468del	NCBI36
NG_009060.1:g.18409_18412del , LRG_274:g.18409_18412del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.571+3_571+6del	ENSP00000252444.6:n.571+3_571+6del
ENST00000559340.2:c.313+3_313+6del	ENSP00000453696.2:n.313+3_313+6del
ENST00000560467.2:c.313+3_313+6del	ENSP00000453513.2:n.313+3_313+6del
ENST00000558518.6:c.313+3_313+6del MANE Select	ENSP00000454071.1:n.313+3_313+6del
ENST00000252444.9:c.567+3_567+6del
ENST00000455727.6:c.313+3_313+6del	ENSP00000397829.2:n.313+3_313+6del
ENST00000535915.5:c.191-2431_191-2428del	ENSP00000440520.1:n.191-2431_191-2428del
ENST00000545707.5:c.313+3_313+6del	ENSP00000437639.1:n.313+3_313+6del
ENST00000557933.5:c.313+3_313+6del	ENSP00000453557.1:n.313+3_313+6del
ENST00000557958.1:n.402_405del
ENST00000558013.5:c.313+3_313+6del	ENSP00000453346.1:n.313+3_313+6del
ENST00000558518.5:c.313+3_313+6del	ENSP00000454071.1:n.313+3_313+6del
NM_000527.4:c.313+3_313+6del , LRG_274t1:c.313+3_313+6del	NP_000518.1:n.313+3_313+6del
NM_001195798.1:c.313+3_313+6del	NP_001182727.1:n.313+3_313+6del
NM_001195799.1:c.191-2431_191-2428del	NP_001182728.1:n.191-2431_191-2428del
NM_001195800.1:c.313+3_313+6del	NP_001182729.1:n.313+3_313+6del
NM_001195803.1:c.313+3_313+6del	NP_001182732.1:n.313+3_313+6del
XM_011528010.1:c.313+3_313+6del	XP_011526312.1:n.313+3_313+6del
XM_011528011.1:c.313+3_313+6del	XP_011526313.1:n.313+3_313+6del
XR_244074.2:n.463+3_463+6del
XM_011528010.2:c.313+3_313+6del	XP_011526312.1:n.313+3_313+6del
XR_001753685.2:n.430+3_430+6del
XR_001753686.2:n.430+3_430+6del
NM_000527.5:c.313+3_313+6del MANE Select	NP_000518.1:n.313+3_313+6del
NM_001195798.2:c.313+3_313+6del	NP_001182727.1:n.313+3_313+6del
NM_001195799.2:c.191-2431_191-2428del	NP_001182728.1:n.191-2431_191-2428del
NM_001195800.2:c.313+3_313+6del	NP_001182729.1:n.313+3_313+6del
NM_001195803.2:c.313+3_313+6del	NP_001182732.1:n.313+3_313+6del