Canonical Allele Identifier: CA2322775538

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120381_11120388delinsTGTGAGAG , CM000681.2:g.11120381_11120388delinsTGTGAGAG	GRCh38
NC_000019.9:g.11231057_11231064delinsTGTGAGAG , CM000681.1:g.11231057_11231064delinsTGTGAGAG	GRCh37
NC_000019.8:g.11092057_11092064delinsTGTGAGAG	NCBI36
NG_009060.1:g.36001_36008delinsTGTGAGAG , LRG_274:g.36001_36008delinsTGTGAGAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2257_2264delinsTGTGAGAG	ENSP00000252444.6:p.Cys753=
ENST00000559340.2:c.*68_*75delinsTGTGAGAG	ENSP00000453696.2:n.*68_*75delinsTGTGAGAG...
ENST00000560467.2:c.1879_1886delinsTGTGAGAG	ENSP00000453513.2:p.Cys627=
ENST00000558518.6:c.1999_2006delinsTGTGAGAG MANE Select	ENSP00000454071.1:p.Cys667=
ENST00000252444.9:c.2253_2260delinsTGTGAGAG
ENST00000455727.6:c.1495_1502delinsTGTGAGAG	ENSP00000397829.2:p.Cys499=
ENST00000535915.5:c.1876_1883delinsTGTGAGAG	ENSP00000440520.1:p.Cys626=
ENST00000545707.5:c.1606+148_1606+155delinsTGTGAGAG	ENSP00000437639.1:n.1606+148_1606+155deli...
ENST00000557933.5:c.1999_2006delinsTGTGAGAG	ENSP00000453557.1:p.Cys667=
ENST00000558013.5:c.1999_2006delinsTGTGAGAG	ENSP00000453346.1:p.Cys667=
ENST00000558518.5:c.1999_2006delinsTGTGAGAG	ENSP00000454071.1:p.Cys667=
ENST00000559340.1:c.580_587delinsTGTGAGAG
NM_000527.4:c.1999_2006delinsTGTGAGAG , LRG_274t1:c.1999_2006delinsTGTGAGAG	NP_000518.1:p.Cys667=
NM_001195798.1:c.1999_2006delinsTGTGAGAG	NP_001182727.1:p.Cys667=
NM_001195799.1:c.1876_1883delinsTGTGAGAG	NP_001182728.1:p.Cys626=
NM_001195800.1:c.1495_1502delinsTGTGAGAG	NP_001182729.1:p.Cys499=
NM_001195803.1:c.1606+148_1606+155delinsTGTGAGAG	NP_001182732.1:n.1606+148_1606+155delinsT...
XM_011528010.1:c.1999_2006delinsTGTGAGAG	XP_011526312.1:p.Cys667=
XM_011528011.1:c.1618_1625delinsTGTGAGAG	XP_011526313.1:p.Cys540=
XR_244074.2:n.2009_2016delinsTGTGAGAG
XM_011528010.2:c.1999_2006delinsTGTGAGAG	XP_011526312.1:p.Cys667=
XR_001753685.2:n.2116_2123delinsTGTGAGAG
XR_001753686.2:n.1976_1983delinsTGTGAGAG
NM_000527.5:c.1999_2006delinsTGTGAGAG MANE Select	NP_000518.1:p.Cys667=
NM_001195798.2:c.1999_2006delinsTGTGAGAG	NP_001182727.1:p.Cys667=
NM_001195799.2:c.1876_1883delinsTGTGAGAG	NP_001182728.1:p.Cys626=
NM_001195800.2:c.1495_1502delinsTGTGAGAG	NP_001182729.1:p.Cys499=
NM_001195803.2:c.1606+148_1606+155delinsTGTGAGAG	NP_001182732.1:n.1606+148_1606+155delinsT...