Canonical Allele Identifier: CA2322768561

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11107391_11107399delinsGTGACACTC , CM000681.2:g.11107391_11107399delinsGTGACACTC	GRCh38
NC_000019.9:g.11218067_11218075delinsGTGACACTC , CM000681.1:g.11218067_11218075delinsGTGACACTC	GRCh37
NC_000019.8:g.11079067_11079075delinsGTGACACTC	NCBI36
NG_009060.1:g.23011_23019delinsGTGACACTC , LRG_274:g.23011_23019delinsGTGACACTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1076-1_1083delinsGTGACACTC
ENST00000559340.2:c.818-1_825delinsGTGACACTC
ENST00000560467.2:c.818-1_825delinsGTGACACTC
ENST00000558518.6:c.818-1_825delinsGTGACACTC
ENST00000252444.9:c.1072-1_1079delinsGTGACACTC
ENST00000455727.6:c.314-1_321delinsGTGACACTC
ENST00000535915.5:c.695-1_702delinsGTGACACTC
ENST00000545707.5:c.437-1_444delinsGTGACACTC
ENST00000557933.5:c.818-1_825delinsGTGACACTC
ENST00000558013.5:c.818-1_825delinsGTGACACTC
ENST00000558518.5:c.818-1_825delinsGTGACACTC
ENST00000558528.1:n.333-1_340delinsGTGACACTC
ENST00000560467.1:c.418-1_425delinsGTGACACTC
NM_000527.4:c.818-1_825delinsGTGACACTC , LRG_274t1:c.818-1_825delinsGTGACACTC
NM_001195798.1:c.818-1_825delinsGTGACACTC
NM_001195799.1:c.695-1_702delinsGTGACACTC
NM_001195800.1:c.314-1_321delinsGTGACACTC
NM_001195803.1:c.437-1_444delinsGTGACACTC
XM_011528010.1:c.818-1_825delinsGTGACACTC
XM_011528011.1:c.437-1_444delinsGTGACACTC
XR_244074.2:n.968-1_975delinsGTGACACTC
XM_011528010.2:c.818-1_825delinsGTGACACTC
XR_001753685.2:n.935-1_942delinsGTGACACTC
XR_001753686.2:n.935-1_942delinsGTGACACTC
NM_000527.5:c.818-1_825delinsGTGACACTC
NM_001195798.2:c.818-1_825delinsGTGACACTC
NM_001195799.2:c.695-1_702delinsGTGACACTC
NM_001195800.2:c.314-1_321delinsGTGACACTC
NM_001195803.2:c.437-1_444delinsGTGACACTC