Canonical Allele Identifier: CA2582474642

Gene: LDLR

Linked Data

• gnomAD v4: 19-11113405-CAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113406_11113407del , CM000681.2:g.11113406_11113407del	GRCh38
NC_000019.9:g.11224082_11224083del , CM000681.1:g.11224082_11224083del	GRCh37
NC_000019.8:g.11085082_11085083del	NCBI36
NG_009060.1:g.29026_29027del , LRG_274:g.29026_29027del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1573_1574del	ENSP00000252444.6:p.Asn525Ter
ENST00000559340.2:c.1315_1316del	ENSP00000453696.2:p.Asn439Ter
ENST00000560467.2:c.1195_1196del	ENSP00000453513.2:p.Asn399Ter
ENST00000558518.6:c.1315_1316del MANE Select	ENSP00000454071.1:p.Asn439Ter
ENST00000252444.9:c.1569_1570del
ENST00000455727.6:c.811_812del	ENSP00000397829.2:p.Asn271Ter
ENST00000535915.5:c.1192_1193del	ENSP00000440520.1:p.Asn398Ter
ENST00000545707.5:c.934_935del	ENSP00000437639.1:p.Asn312Ter
ENST00000557933.5:c.1315_1316del	ENSP00000453557.1:p.Asn439Ter
ENST00000558013.5:c.1315_1316del	ENSP00000453346.1:p.Asn439Ter
ENST00000558518.5:c.1315_1316del	ENSP00000454071.1:p.Asn439Ter
ENST00000559340.1:c.36_37del
ENST00000560173.1:n.314_315del
ENST00000560467.1:c.795_796del
NM_000527.4:c.1315_1316del , LRG_274t1:c.1315_1316del	NP_000518.1:p.Asn439Ter
NM_001195798.1:c.1315_1316del	NP_001182727.1:p.Asn439Ter
NM_001195799.1:c.1192_1193del	NP_001182728.1:p.Asn398Ter
NM_001195800.1:c.811_812del	NP_001182729.1:p.Asn271Ter
NM_001195803.1:c.934_935del	NP_001182732.1:p.Asn312Ter
XM_011528010.1:c.1315_1316del	XP_011526312.1:p.Asn439Ter
XM_011528011.1:c.934_935del	XP_011526313.1:p.Asn312Ter
XR_244074.2:n.1465_1466del
XM_011528010.2:c.1315_1316del	XP_011526312.1:p.Asn439Ter
XR_001753685.2:n.1432_1433del
XR_001753686.2:n.1432_1433del
NM_000527.5:c.1315_1316del MANE Select	NP_000518.1:p.Asn439Ter
NM_001195798.2:c.1315_1316del	NP_001182727.1:p.Asn439Ter
NM_001195799.2:c.1192_1193del	NP_001182728.1:p.Asn398Ter
NM_001195800.2:c.811_812del	NP_001182729.1:p.Asn271Ter
NM_001195803.2:c.934_935del	NP_001182732.1:p.Asn312Ter