Canonical Allele Identifier: CA2813589968

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105625del , CM000681.2:g.11105625del	GRCh38
NC_000019.9:g.11216301del , CM000681.1:g.11216301del	GRCh37
NC_000019.8:g.11077301del	NCBI36
NG_009060.1:g.21245del , LRG_274:g.21245del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.952+25del	ENSP00000252444.6:n.952+25del
ENST00000559340.2:c.694+25del	ENSP00000453696.2:n.694+25del
ENST00000560467.2:c.694+25del	ENSP00000453513.2:n.694+25del
ENST00000558518.6:c.694+25del MANE Select	ENSP00000454071.1:n.694+25del
ENST00000252444.9:c.948+25del
ENST00000455727.6:c.314-1767del	ENSP00000397829.2:n.314-1767del
ENST00000535915.5:c.571+25del	ENSP00000440520.1:n.571+25del
ENST00000545707.5:c.314-940del	ENSP00000437639.1:n.314-940del
ENST00000557933.5:c.694+25del	ENSP00000453557.1:n.694+25del
ENST00000558013.5:c.694+25del	ENSP00000453346.1:n.694+25del
ENST00000558518.5:c.694+25del	ENSP00000454071.1:n.694+25del
ENST00000560467.1:c.294+25del
NM_000527.4:c.694+25del , LRG_274t1:c.694+25del	NP_000518.1:n.694+25del
NM_001195798.1:c.694+25del	NP_001182727.1:n.694+25del
NM_001195799.1:c.571+25del	NP_001182728.1:n.571+25del
NM_001195800.1:c.314-1767del	NP_001182729.1:n.314-1767del
NM_001195803.1:c.314-940del	NP_001182732.1:n.314-940del
XM_011528010.1:c.694+25del	XP_011526312.1:n.694+25del
XM_011528011.1:c.314-940del	XP_011526313.1:n.314-940del
XR_244074.2:n.844+25del
XM_011528010.2:c.694+25del	XP_011526312.1:n.694+25del
XR_001753685.2:n.811+25del
XR_001753686.2:n.811+25del
NM_000527.5:c.694+25del MANE Select	NP_000518.1:n.694+25del
NM_001195798.2:c.694+25del	NP_001182727.1:n.694+25del
NM_001195799.2:c.571+25del	NP_001182728.1:n.571+25del
NM_001195800.2:c.314-1767del	NP_001182729.1:n.314-1767del
NM_001195803.2:c.314-940del	NP_001182732.1:n.314-940del