Canonical Allele Identifier: CA2582473811

Gene: LDLR

Linked Data

• gnomAD v4: 19-11106524-CTCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11106529_11106531del , CM000681.2:g.11106529_11106531del	GRCh38
NC_000019.9:g.11217205_11217207del , CM000681.1:g.11217205_11217207del	GRCh37
NC_000019.8:g.11078205_11078207del	NCBI36
NG_009060.1:g.22149_22151del , LRG_274:g.22149_22151del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.953-36_953-34del	ENSP00000252444.6:n.953-36_953-34del
ENST00000559340.2:c.695-36_695-34del	ENSP00000453696.2:n.695-36_695-34del
ENST00000560467.2:c.695-36_695-34del	ENSP00000453513.2:n.695-36_695-34del
ENST00000558518.6:c.695-36_695-34del MANE Select	ENSP00000454071.1:n.695-36_695-34del
ENST00000252444.9:c.949-36_949-34del
ENST00000455727.6:c.314-863_314-861del	ENSP00000397829.2:n.314-863_314-861del
ENST00000535915.5:c.572-36_572-34del	ENSP00000440520.1:n.572-36_572-34del
ENST00000545707.5:c.314-36_314-34del	ENSP00000437639.1:n.314-36_314-34del
ENST00000557933.5:c.695-36_695-34del	ENSP00000453557.1:n.695-36_695-34del
ENST00000558013.5:c.695-36_695-34del	ENSP00000453346.1:n.695-36_695-34del
ENST00000558518.5:c.695-36_695-34del	ENSP00000454071.1:n.695-36_695-34del
ENST00000558528.1:n.174_176del
ENST00000560467.1:c.295-36_295-34del
NM_000527.4:c.695-36_695-34del , LRG_274t1:c.695-36_695-34del	NP_000518.1:n.695-36_695-34del
NM_001195798.1:c.695-36_695-34del	NP_001182727.1:n.695-36_695-34del
NM_001195799.1:c.572-36_572-34del	NP_001182728.1:n.572-36_572-34del
NM_001195800.1:c.314-863_314-861del	NP_001182729.1:n.314-863_314-861del
NM_001195803.1:c.314-36_314-34del	NP_001182732.1:n.314-36_314-34del
XM_011528010.1:c.695-36_695-34del	XP_011526312.1:n.695-36_695-34del
XM_011528011.1:c.314-36_314-34del	XP_011526313.1:n.314-36_314-34del
XR_244074.2:n.845-36_845-34del
XM_011528010.2:c.695-36_695-34del	XP_011526312.1:n.695-36_695-34del
XR_001753685.2:n.812-36_812-34del
XR_001753686.2:n.812-36_812-34del
NM_000527.5:c.695-36_695-34del MANE Select	NP_000518.1:n.695-36_695-34del
NM_001195798.2:c.695-36_695-34del	NP_001182727.1:n.695-36_695-34del
NM_001195799.2:c.572-36_572-34del	NP_001182728.1:n.572-36_572-34del
NM_001195800.2:c.314-863_314-861del	NP_001182729.1:n.314-863_314-861del
NM_001195803.2:c.314-36_314-34del	NP_001182732.1:n.314-36_314-34del