Canonical Allele Identifier: CA2322773759

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11116993_11116999delinsTTTGAGG , CM000681.2:g.11116993_11116999delinsTTTGAGG	GRCh38
NC_000019.9:g.11227669_11227675delinsTTTGAGG , CM000681.1:g.11227669_11227675delinsTTTGAGG	GRCh37
NC_000019.8:g.11088669_11088675delinsTTTGAGG	NCBI36
NG_009060.1:g.32613_32619delinsTTTGAGG , LRG_274:g.32613_32619delinsTTTGAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2098_2103+1delinsTTTGAGG
ENST00000559340.2:c.1705+781_1705+787delinsTTTGAGG	ENSP00000453696.2:n.1705+781_1705+787delinsTTTGAGG
ENST00000560467.2:c.1720_1725+1delinsTTTGAGG
ENST00000558518.6:c.1840_1845+1delinsTTTGAGG
ENST00000252444.9:c.2094_2099+1delinsTTTGAGG
ENST00000455727.6:c.1336_1341+1delinsTTTGAGG
ENST00000535915.5:c.1717_1722+1delinsTTTGAGG
ENST00000545707.5:c.1459_1464+1delinsTTTGAGG
ENST00000557933.5:c.1840_1845+1delinsTTTGAGG
ENST00000558013.5:c.1840_1845+1delinsTTTGAGG
ENST00000558518.5:c.1840_1845+1delinsTTTGAGG
ENST00000559340.1:c.426+781_426+787delinsTTTGAGG
NM_000527.4:c.1840_1845+1delinsTTTGAGG , LRG_274t1:c.1840_1845+1delinsTTTGAGG
NM_001195798.1:c.1840_1845+1delinsTTTGAGG
NM_001195799.1:c.1717_1722+1delinsTTTGAGG
NM_001195800.1:c.1336_1341+1delinsTTTGAGG
NM_001195803.1:c.1459_1464+1delinsTTTGAGG
XM_011528010.1:c.1840_1845+1delinsTTTGAGG
XM_011528011.1:c.1459_1464+1delinsTTTGAGG
XR_244074.2:n.1855+781_1855+787delinsTTTGAGG
XM_011528010.2:c.1840_1845+1delinsTTTGAGG
XR_001753685.2:n.1957_1962+1delinsTTTGAGG
XR_001753686.2:n.1822+781_1822+787delinsTTTGAGG
NM_000527.5:c.1840_1845+1delinsTTTGAGG
NM_001195798.2:c.1840_1845+1delinsTTTGAGG
NM_001195799.2:c.1717_1722+1delinsTTTGAGG
NM_001195800.2:c.1336_1341+1delinsTTTGAGG
NM_001195803.2:c.1459_1464+1delinsTTTGAGG