Canonical Allele Identifier: CA2582473572

Gene: LDLR

Linked Data

• gnomAD v4: 19-11106225-C-CTTTTTTTTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11106232_11106233insTTTTTTTTTTTTT , CM000681.2:g.11106232_11106233insTTTTTTTTTTTTT	GRCh38
NC_000019.9:g.11216908_11216909insTTTTTTTTTTTTT , CM000681.1:g.11216908_11216909insTTTTTTTTTTTTT	GRCh37
NC_000019.8:g.11077908_11077909insTTTTTTTTTTTTT	NCBI36
NG_009060.1:g.21852_21853insTTTTTTTTTTTTT , LRG_274:g.21852_21853insTTTTTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.953-333_953-332insTTTTTTTTTTTTT	ENSP00000252444.6:n.953-333_953-332insTTTTTTTTTTTTT
ENST00000559340.2:c.695-333_695-332insTTTTTTTTTTTTT	ENSP00000453696.2:n.695-333_695-332insTTTTTTTTTTTTT
ENST00000560467.2:c.695-333_695-332insTTTTTTTTTTTTT	ENSP00000453513.2:n.695-333_695-332insTTTTTTTTTTTTT
ENST00000558518.6:c.695-333_695-332insTTTTTTTTTTTTT MANE Select	ENSP00000454071.1:n.695-333_695-332insTTTTTTTTTTTTT
ENST00000252444.9:c.949-333_949-332insTTTTTTTTTTTTT
ENST00000455727.6:c.314-1160_314-1159insTTTTTTTTTTTTT	ENSP00000397829.2:n.314-1160_314-1159insTTTTTTTTTTTTT
ENST00000535915.5:c.572-333_572-332insTTTTTTTTTTTTT	ENSP00000440520.1:n.572-333_572-332insTTTTTTTTTTTTT
ENST00000545707.5:c.314-333_314-332insTTTTTTTTTTTTT	ENSP00000437639.1:n.314-333_314-332insTTTTTTTTTTTTT
ENST00000557933.5:c.695-333_695-332insTTTTTTTTTTTTT	ENSP00000453557.1:n.695-333_695-332insTTTTTTTTTTTTT
ENST00000558013.5:c.695-333_695-332insTTTTTTTTTTTTT	ENSP00000453346.1:n.695-333_695-332insTTTTTTTTTTTTT
ENST00000558518.5:c.695-333_695-332insTTTTTTTTTTTTT	ENSP00000454071.1:n.695-333_695-332insTTTTTTTTTTTTT
ENST00000560467.1:c.295-333_295-332insTTTTTTTTTTTTT
NM_000527.4:c.695-333_695-332insTTTTTTTTTTTTT , LRG_274t1:c.695-333_695-332insTTTTTTTTTTTTT	NP_000518.1:n.695-333_695-332insTTTTTTTTTTTTT
NM_001195798.1:c.695-333_695-332insTTTTTTTTTTTTT	NP_001182727.1:n.695-333_695-332insTTTTTTTTTTTTT
NM_001195799.1:c.572-333_572-332insTTTTTTTTTTTTT	NP_001182728.1:n.572-333_572-332insTTTTTTTTTTTTT
NM_001195800.1:c.314-1160_314-1159insTTTTTTTTTTTTT	NP_001182729.1:n.314-1160_314-1159insTTTTTTTTTTTTT
NM_001195803.1:c.314-333_314-332insTTTTTTTTTTTTT	NP_001182732.1:n.314-333_314-332insTTTTTTTTTTTTT
XM_011528010.1:c.695-333_695-332insTTTTTTTTTTTTT	XP_011526312.1:n.695-333_695-332insTTTTTTTTTTTTT
XM_011528011.1:c.314-333_314-332insTTTTTTTTTTTTT	XP_011526313.1:n.314-333_314-332insTTTTTTTTTTTTT
XR_244074.2:n.845-333_845-332insTTTTTTTTTTTTT
XM_011528010.2:c.695-333_695-332insTTTTTTTTTTTTT	XP_011526312.1:n.695-333_695-332insTTTTTTTTTTTTT
XR_001753685.2:n.812-333_812-332insTTTTTTTTTTTTT
XR_001753686.2:n.812-333_812-332insTTTTTTTTTTTTT
NM_000527.5:c.695-333_695-332insTTTTTTTTTTTTT MANE Select	NP_000518.1:n.695-333_695-332insTTTTTTTTTTTTT
NM_001195798.2:c.695-333_695-332insTTTTTTTTTTTTT	NP_001182727.1:n.695-333_695-332insTTTTTTTTTTTTT
NM_001195799.2:c.572-333_572-332insTTTTTTTTTTTTT	NP_001182728.1:n.572-333_572-332insTTTTTTTTTTTTT
NM_001195800.2:c.314-1160_314-1159insTTTTTTTTTTTTT	NP_001182729.1:n.314-1160_314-1159insTTTTTTTTTTTTT
NM_001195803.2:c.314-333_314-332insTTTTTTTTTTTTT	NP_001182732.1:n.314-333_314-332insTTTTTTTTTTTTT