Canonical Allele Identifier: CA2582473458

Gene: LDLR

Linked Data

• gnomAD v4: 19-11105280-AGTTCGTC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105281_11105287del , CM000681.2:g.11105281_11105287del	GRCh38
NC_000019.9:g.11215957_11215963del , CM000681.1:g.11215957_11215963del	GRCh37
NC_000019.8:g.11076957_11076963del	NCBI36
NG_009060.1:g.20901_20907del , LRG_274:g.20901_20907del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.633_639del	ENSP00000252444.6:p.Gln211HisfsTer?
ENST00000559340.2:c.375_381del	ENSP00000453696.2:p.Gln125HisfsTer?
ENST00000560467.2:c.375_381del	ENSP00000453513.2:p.Gln125HisfsTer?
ENST00000558518.6:c.375_381del MANE Select	ENSP00000454071.1:p.Gln125HisfsTer?
ENST00000252444.9:c.629_635del
ENST00000455727.6:c.314-2111_314-2105del	ENSP00000397829.2:n.314-2111_314-2105del
ENST00000535915.5:c.252_258del	ENSP00000440520.1:p.Gln84HisfsTer?
ENST00000545707.5:c.314-1284_314-1278del	ENSP00000437639.1:n.314-1284_314-1278del
ENST00000557933.5:c.375_381del	ENSP00000453557.1:p.Gln125HisfsTer?
ENST00000558013.5:c.375_381del	ENSP00000453346.1:p.Gln125HisfsTer?
ENST00000558518.5:c.375_381del	ENSP00000454071.1:p.Gln125HisfsTer?
NM_000527.4:c.375_381del , LRG_274t1:c.375_381del	NP_000518.1:p.Gln125HisfsTer?
NM_001195798.1:c.375_381del	NP_001182727.1:p.Gln125HisfsTer?
NM_001195799.1:c.252_258del	NP_001182728.1:p.Gln84HisfsTer?
NM_001195800.1:c.314-2111_314-2105del	NP_001182729.1:n.314-2111_314-2105del
NM_001195803.1:c.314-1284_314-1278del	NP_001182732.1:n.314-1284_314-1278del
XM_011528010.1:c.375_381del	XP_011526312.1:p.Gln125HisfsTer?
XM_011528011.1:c.314-1284_314-1278del	XP_011526313.1:n.314-1284_314-1278del
XR_244074.2:n.525_531del
XM_011528010.2:c.375_381del	XP_011526312.1:p.Gln125HisfsTer?
XR_001753685.2:n.492_498del
XR_001753686.2:n.492_498del
NM_000527.5:c.375_381del MANE Select	NP_000518.1:p.Gln125HisfsTer?
NM_001195798.2:c.375_381del	NP_001182727.1:p.Gln125HisfsTer?
NM_001195799.2:c.252_258del	NP_001182728.1:p.Gln84HisfsTer?
NM_001195800.2:c.314-2111_314-2105del	NP_001182729.1:n.314-2111_314-2105del
NM_001195803.2:c.314-1284_314-1278del	NP_001182732.1:n.314-1284_314-1278del