Canonical Allele Identifier: CA2497030064

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113610_11113624delinsTCCAGTA , CM000681.2:g.11113610_11113624delinsTCCAGTA	GRCh38
NC_000019.9:g.11224286_11224300delinsTCCAGTA , CM000681.1:g.11224286_11224300delinsTCCAGTA	GRCh37
NC_000019.8:g.11085286_11085300delinsTCCAGTA	NCBI36
NG_009060.1:g.29230_29244delinsTCCAGTA , LRG_274:g.29230_29244delinsTCCAGTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1692_1706delinsTCCAGTA	ENSP00000252444.6:p.Leu565ProfsTer?
ENST00000559340.2:c.1434_1448delinsTCCAGTA	ENSP00000453696.2:p.Leu479ProfsTer?
ENST00000560467.2:c.1314_1328delinsTCCAGTA	ENSP00000453513.2:p.Leu439ProfsTer?
ENST00000558518.6:c.1434_1448delinsTCCAGTA MANE Select	ENSP00000454071.1:p.Leu479ProfsTer?
ENST00000252444.9:c.1688_1702delinsTCCAGTA
ENST00000455727.6:c.930_944delinsTCCAGTA	ENSP00000397829.2:p.Leu311ProfsTer?
ENST00000535915.5:c.1311_1325delinsTCCAGTA	ENSP00000440520.1:p.Leu438ProfsTer?
ENST00000545707.5:c.1053_1067delinsTCCAGTA	ENSP00000437639.1:p.Leu352ProfsTer?
ENST00000557933.5:c.1434_1448delinsTCCAGTA	ENSP00000453557.1:p.Leu479ProfsTer?
ENST00000558013.5:c.1434_1448delinsTCCAGTA	ENSP00000453346.1:p.Leu479ProfsTer?
ENST00000558518.5:c.1434_1448delinsTCCAGTA	ENSP00000454071.1:p.Leu479ProfsTer?
ENST00000559340.1:c.155_169delinsTCCAGTA
ENST00000560467.1:c.914_928delinsTCCAGTA
NM_000527.4:c.1434_1448delinsTCCAGTA , LRG_274t1:c.1434_1448delinsTCCAGTA	NP_000518.1:p.Leu479ProfsTer?
NM_001195798.1:c.1434_1448delinsTCCAGTA	NP_001182727.1:p.Leu479ProfsTer?
NM_001195799.1:c.1311_1325delinsTCCAGTA	NP_001182728.1:p.Leu438ProfsTer?
NM_001195800.1:c.930_944delinsTCCAGTA	NP_001182729.1:p.Leu311ProfsTer?
NM_001195803.1:c.1053_1067delinsTCCAGTA	NP_001182732.1:p.Leu352ProfsTer?
XM_011528010.1:c.1434_1448delinsTCCAGTA	XP_011526312.1:p.Leu479ProfsTer?
XM_011528011.1:c.1053_1067delinsTCCAGTA	XP_011526313.1:p.Leu352ProfsTer?
XR_244074.2:n.1584_1598delinsTCCAGTA
XM_011528010.2:c.1434_1448delinsTCCAGTA	XP_011526312.1:p.Leu479ProfsTer?
XR_001753685.2:n.1551_1565delinsTCCAGTA
XR_001753686.2:n.1551_1565delinsTCCAGTA
NM_000527.5:c.1434_1448delinsTCCAGTA MANE Select	NP_000518.1:p.Leu479ProfsTer?
NM_001195798.2:c.1434_1448delinsTCCAGTA	NP_001182727.1:p.Leu479ProfsTer?
NM_001195799.2:c.1311_1325delinsTCCAGTA	NP_001182728.1:p.Leu438ProfsTer?
NM_001195800.2:c.930_944delinsTCCAGTA	NP_001182729.1:p.Leu311ProfsTer?
NM_001195803.2:c.1053_1067delinsTCCAGTA	NP_001182732.1:p.Leu352ProfsTer?