Canonical Allele Identifier: CA645509278

Gene: LDLR

Linked Data

• ClinVar Variation Id: 440638
• ClinVar RCV Id: RCV000508938
• dbSNP Id: rs1555805337

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113555_11113570delinsCAGCT , CM000681.2:g.11113555_11113570delinsCAGCT	GRCh38
NC_000019.9:g.11224231_11224246delinsCAGCT , CM000681.1:g.11224231_11224246delinsCAGCT	GRCh37
NC_000019.8:g.11085231_11085246delinsCAGCT	NCBI36
NG_009060.1:g.29175_29190delinsCAGCT , LRG_274:g.29175_29190delinsCAGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1637_1652delinsCAGCT	ENSP00000252444.6:p.His546ProfsTer3
ENST00000559340.2:c.1379_1394delinsCAGCT	ENSP00000453696.2:p.His460ProfsTer3
ENST00000560467.2:c.1259_1274delinsCAGCT	ENSP00000453513.2:p.His420ProfsTer3
ENST00000558518.6:c.1379_1394delinsCAGCT MANE Select	ENSP00000454071.1:p.His460ProfsTer3
ENST00000252444.9:c.1633_1648delinsCAGCT
ENST00000455727.6:c.875_890delinsCAGCT	ENSP00000397829.2:p.His292ProfsTer3
ENST00000535915.5:c.1256_1271delinsCAGCT	ENSP00000440520.1:p.His419ProfsTer3
ENST00000545707.5:c.998_1013delinsCAGCT	ENSP00000437639.1:p.His333ProfsTer3
ENST00000557933.5:c.1379_1394delinsCAGCT	ENSP00000453557.1:p.His460ProfsTer3
ENST00000558013.5:c.1379_1394delinsCAGCT	ENSP00000453346.1:p.His460ProfsTer3
ENST00000558518.5:c.1379_1394delinsCAGCT	ENSP00000454071.1:p.His460ProfsTer3
ENST00000559340.1:c.100_115delinsCAGCT
ENST00000560467.1:c.859_874delinsCAGCT
NM_000527.4:c.1379_1394delinsCAGCT , LRG_274t1:c.1379_1394delinsCAGCT	NP_000518.1:p.His460ProfsTer3
NM_001195798.1:c.1379_1394delinsCAGCT	NP_001182727.1:p.His460ProfsTer3
NM_001195799.1:c.1256_1271delinsCAGCT	NP_001182728.1:p.His419ProfsTer3
NM_001195800.1:c.875_890delinsCAGCT	NP_001182729.1:p.His292ProfsTer3
NM_001195803.1:c.998_1013delinsCAGCT	NP_001182732.1:p.His333ProfsTer3
XM_011528010.1:c.1379_1394delinsCAGCT	XP_011526312.1:p.His460ProfsTer3
XM_011528011.1:c.998_1013delinsCAGCT	XP_011526313.1:p.His333ProfsTer3
XR_244074.2:n.1529_1544delinsCAGCT
XM_011528010.2:c.1379_1394delinsCAGCT	XP_011526312.1:p.His460ProfsTer3
XR_001753685.2:n.1496_1511delinsCAGCT
XR_001753686.2:n.1496_1511delinsCAGCT
NM_000527.5:c.1379_1394delinsCAGCT MANE Select	NP_000518.1:p.His460ProfsTer3
NM_001195798.2:c.1379_1394delinsCAGCT	NP_001182727.1:p.His460ProfsTer3
NM_001195799.2:c.1256_1271delinsCAGCT	NP_001182728.1:p.His419ProfsTer3
NM_001195800.2:c.875_890delinsCAGCT	NP_001182729.1:p.His292ProfsTer3
NM_001195803.2:c.998_1013delinsCAGCT	NP_001182732.1:p.His333ProfsTer3