Canonical Allele Identifier: CA2322767934

Gene: LDLR

Linked Data

• dbSNP Id: rs2077291879
• gnomAD v3: 19-11106135-A-AGGCT
• gnomAD v4: 19-11106135-A-AGGCT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11106138_11106141dup , CM000681.2:g.11106138_11106141dup	GRCh38
NC_000019.9:g.11216814_11216817dup , CM000681.1:g.11216814_11216817dup	GRCh37
NC_000019.8:g.11077814_11077817dup	NCBI36
NG_009060.1:g.21758_21761dup , LRG_274:g.21758_21761dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.953-427_953-424dup	ENSP00000252444.6:n.953-427_953-424dup
ENST00000559340.2:c.695-427_695-424dup	ENSP00000453696.2:n.695-427_695-424dup
ENST00000560467.2:c.695-427_695-424dup	ENSP00000453513.2:n.695-427_695-424dup
ENST00000558518.6:c.695-427_695-424dup MANE Select	ENSP00000454071.1:n.695-427_695-424dup
ENST00000252444.9:c.949-427_949-424dup
ENST00000455727.6:c.314-1254_314-1251dup	ENSP00000397829.2:n.314-1254_314-1251dup
ENST00000535915.5:c.572-427_572-424dup	ENSP00000440520.1:n.572-427_572-424dup
ENST00000545707.5:c.314-427_314-424dup	ENSP00000437639.1:n.314-427_314-424dup
ENST00000557933.5:c.695-427_695-424dup	ENSP00000453557.1:n.695-427_695-424dup
ENST00000558013.5:c.695-427_695-424dup	ENSP00000453346.1:n.695-427_695-424dup
ENST00000558518.5:c.695-427_695-424dup	ENSP00000454071.1:n.695-427_695-424dup
ENST00000560467.1:c.295-427_295-424dup
NM_000527.4:c.695-427_695-424dup , LRG_274t1:c.695-427_695-424dup	NP_000518.1:n.695-427_695-424dup
NM_001195798.1:c.695-427_695-424dup	NP_001182727.1:n.695-427_695-424dup
NM_001195799.1:c.572-427_572-424dup	NP_001182728.1:n.572-427_572-424dup
NM_001195800.1:c.314-1254_314-1251dup	NP_001182729.1:n.314-1254_314-1251dup
NM_001195803.1:c.314-427_314-424dup	NP_001182732.1:n.314-427_314-424dup
XM_011528010.1:c.695-427_695-424dup	XP_011526312.1:n.695-427_695-424dup
XM_011528011.1:c.314-427_314-424dup	XP_011526313.1:n.314-427_314-424dup
XR_244074.2:n.845-427_845-424dup
XM_011528010.2:c.695-427_695-424dup	XP_011526312.1:n.695-427_695-424dup
XR_001753685.2:n.812-427_812-424dup
XR_001753686.2:n.812-427_812-424dup
NM_000527.5:c.695-427_695-424dup MANE Select	NP_000518.1:n.695-427_695-424dup
NM_001195798.2:c.695-427_695-424dup	NP_001182727.1:n.695-427_695-424dup
NM_001195799.2:c.572-427_572-424dup	NP_001182728.1:n.572-427_572-424dup
NM_001195800.2:c.314-1254_314-1251dup	NP_001182729.1:n.314-1254_314-1251dup
NM_001195803.2:c.314-427_314-424dup	NP_001182732.1:n.314-427_314-424dup