Canonical Allele Identifier: CA2569847295

Gene: LDLR

Linked Data

• gnomAD v4: 19-11116796-CCCTCAGGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11116799_11116806del , CM000681.2:g.11116799_11116806del	GRCh38
NC_000019.9:g.11227475_11227482del , CM000681.1:g.11227475_11227482del	GRCh37
NC_000019.8:g.11088475_11088482del	NCBI36
NG_009060.1:g.32419_32426del , LRG_274:g.32419_32426del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1964-60_1964-53del	ENSP00000252444.6:n.1964-60_1964-53del
ENST00000559340.2:c.1705+587_1705+594del	ENSP00000453696.2:n.1705+587_1705+594del
ENST00000560467.2:c.1586-60_1586-53del	ENSP00000453513.2:n.1586-60_1586-53del
ENST00000558518.6:c.1706-60_1706-53del MANE Select	ENSP00000454071.1:n.1706-60_1706-53del
ENST00000252444.9:c.1960-60_1960-53del
ENST00000455727.6:c.1202-60_1202-53del	ENSP00000397829.2:n.1202-60_1202-53del
ENST00000535915.5:c.1583-60_1583-53del	ENSP00000440520.1:n.1583-60_1583-53del
ENST00000545707.5:c.1325-60_1325-53del	ENSP00000437639.1:n.1325-60_1325-53del
ENST00000557933.5:c.1706-60_1706-53del	ENSP00000453557.1:n.1706-60_1706-53del
ENST00000558013.5:c.1706-60_1706-53del	ENSP00000453346.1:n.1706-60_1706-53del
ENST00000558518.5:c.1706-60_1706-53del	ENSP00000454071.1:n.1706-60_1706-53del
ENST00000559340.1:c.426+587_426+594del
NM_000527.4:c.1706-60_1706-53del , LRG_274t1:c.1706-60_1706-53del	NP_000518.1:n.1706-60_1706-53del
NM_001195798.1:c.1706-60_1706-53del	NP_001182727.1:n.1706-60_1706-53del
NM_001195799.1:c.1583-60_1583-53del	NP_001182728.1:n.1583-60_1583-53del
NM_001195800.1:c.1202-60_1202-53del	NP_001182729.1:n.1202-60_1202-53del
NM_001195803.1:c.1325-60_1325-53del	NP_001182732.1:n.1325-60_1325-53del
XM_011528010.1:c.1706-60_1706-53del	XP_011526312.1:n.1706-60_1706-53del
XM_011528011.1:c.1325-60_1325-53del	XP_011526313.1:n.1325-60_1325-53del
XR_244074.2:n.1855+587_1855+594del
XM_011528010.2:c.1706-60_1706-53del	XP_011526312.1:n.1706-60_1706-53del
XR_001753685.2:n.1823-60_1823-53del
XR_001753686.2:n.1822+587_1822+594del
NM_000527.5:c.1706-60_1706-53del MANE Select	NP_000518.1:n.1706-60_1706-53del
NM_001195798.2:c.1706-60_1706-53del	NP_001182727.1:n.1706-60_1706-53del
NM_001195799.2:c.1583-60_1583-53del	NP_001182728.1:n.1583-60_1583-53del
NM_001195800.2:c.1202-60_1202-53del	NP_001182729.1:n.1202-60_1202-53del
NM_001195803.2:c.1325-60_1325-53del	NP_001182732.1:n.1325-60_1325-53del