Canonical Allele Identifier: CA2582473796

Gene: LDLR

Linked Data

• gnomAD v4: 19-11106481-CGCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11106484_11106486del , CM000681.2:g.11106484_11106486del	GRCh38
NC_000019.9:g.11217160_11217162del , CM000681.1:g.11217160_11217162del	GRCh37
NC_000019.8:g.11078160_11078162del	NCBI36
NG_009060.1:g.22104_22106del , LRG_274:g.22104_22106del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.953-81_953-79del	ENSP00000252444.6:n.953-81_953-79del
ENST00000559340.2:c.695-81_695-79del	ENSP00000453696.2:n.695-81_695-79del
ENST00000560467.2:c.695-81_695-79del	ENSP00000453513.2:n.695-81_695-79del
ENST00000558518.6:c.695-81_695-79del MANE Select	ENSP00000454071.1:n.695-81_695-79del
ENST00000252444.9:c.949-81_949-79del
ENST00000455727.6:c.314-908_314-906del	ENSP00000397829.2:n.314-908_314-906del
ENST00000535915.5:c.572-81_572-79del	ENSP00000440520.1:n.572-81_572-79del
ENST00000545707.5:c.314-81_314-79del	ENSP00000437639.1:n.314-81_314-79del
ENST00000557933.5:c.695-81_695-79del	ENSP00000453557.1:n.695-81_695-79del
ENST00000558013.5:c.695-81_695-79del	ENSP00000453346.1:n.695-81_695-79del
ENST00000558518.5:c.695-81_695-79del	ENSP00000454071.1:n.695-81_695-79del
ENST00000558528.1:n.129_131del
ENST00000560467.1:c.295-81_295-79del
NM_000527.4:c.695-81_695-79del , LRG_274t1:c.695-81_695-79del	NP_000518.1:n.695-81_695-79del
NM_001195798.1:c.695-81_695-79del	NP_001182727.1:n.695-81_695-79del
NM_001195799.1:c.572-81_572-79del	NP_001182728.1:n.572-81_572-79del
NM_001195800.1:c.314-908_314-906del	NP_001182729.1:n.314-908_314-906del
NM_001195803.1:c.314-81_314-79del	NP_001182732.1:n.314-81_314-79del
XM_011528010.1:c.695-81_695-79del	XP_011526312.1:n.695-81_695-79del
XM_011528011.1:c.314-81_314-79del	XP_011526313.1:n.314-81_314-79del
XR_244074.2:n.845-81_845-79del
XM_011528010.2:c.695-81_695-79del	XP_011526312.1:n.695-81_695-79del
XR_001753685.2:n.812-81_812-79del
XR_001753686.2:n.812-81_812-79del
NM_000527.5:c.695-81_695-79del MANE Select	NP_000518.1:n.695-81_695-79del
NM_001195798.2:c.695-81_695-79del	NP_001182727.1:n.695-81_695-79del
NM_001195799.2:c.572-81_572-79del	NP_001182728.1:n.572-81_572-79del
NM_001195800.2:c.314-908_314-906del	NP_001182729.1:n.314-908_314-906del
NM_001195803.2:c.314-81_314-79del	NP_001182732.1:n.314-81_314-79del