Canonical Allele Identifier: CA2582474641

Gene: LDLR

Linked Data

• gnomAD v4: 19-11113624-GGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113625_11113626del , CM000681.2:g.11113625_11113626del	GRCh38
NC_000019.9:g.11224301_11224302del , CM000681.1:g.11224301_11224302del	GRCh37
NC_000019.8:g.11085301_11085302del	NCBI36
NG_009060.1:g.29245_29246del , LRG_274:g.29245_29246del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1707_1708del	ENSP00000252444.6:p.Trp569CysfsTer?
ENST00000559340.2:c.1449_1450del	ENSP00000453696.2:p.Trp483CysfsTer?
ENST00000560467.2:c.1329_1330del	ENSP00000453513.2:p.Trp443CysfsTer?
ENST00000558518.6:c.1449_1450del MANE Select	ENSP00000454071.1:p.Trp483CysfsTer?
ENST00000252444.9:c.1703_1704del
ENST00000455727.6:c.945_946del	ENSP00000397829.2:p.Trp315CysfsTer?
ENST00000535915.5:c.1326_1327del	ENSP00000440520.1:p.Trp442CysfsTer?
ENST00000545707.5:c.1068_1069del	ENSP00000437639.1:p.Trp356CysfsTer?
ENST00000557933.5:c.1449_1450del	ENSP00000453557.1:p.Trp483CysfsTer?
ENST00000558013.5:c.1449_1450del	ENSP00000453346.1:p.Trp483CysfsTer?
ENST00000558518.5:c.1449_1450del	ENSP00000454071.1:p.Trp483CysfsTer?
ENST00000559340.1:c.170_171del
NM_000527.4:c.1449_1450del , LRG_274t1:c.1449_1450del	NP_000518.1:p.Trp483CysfsTer?
NM_001195798.1:c.1449_1450del	NP_001182727.1:p.Trp483CysfsTer?
NM_001195799.1:c.1326_1327del	NP_001182728.1:p.Trp442CysfsTer?
NM_001195800.1:c.945_946del	NP_001182729.1:p.Trp315CysfsTer?
NM_001195803.1:c.1068_1069del	NP_001182732.1:p.Trp356CysfsTer?
XM_011528010.1:c.1449_1450del	XP_011526312.1:p.Trp483CysfsTer?
XM_011528011.1:c.1068_1069del	XP_011526313.1:p.Trp356CysfsTer?
XR_244074.2:n.1599_1600del
XM_011528010.2:c.1449_1450del	XP_011526312.1:p.Trp483CysfsTer?
XR_001753685.2:n.1566_1567del
XR_001753686.2:n.1566_1567del
NM_000527.5:c.1449_1450del MANE Select	NP_000518.1:p.Trp483CysfsTer?
NM_001195798.2:c.1449_1450del	NP_001182727.1:p.Trp483CysfsTer?
NM_001195799.2:c.1326_1327del	NP_001182728.1:p.Trp442CysfsTer?
NM_001195800.2:c.945_946del	NP_001182729.1:p.Trp315CysfsTer?
NM_001195803.2:c.1068_1069del	NP_001182732.1:p.Trp356CysfsTer?