Canonical Allele Identifier: CA2322768583

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11107423_11107426delinsGTGT , CM000681.2:g.11107423_11107426delinsGTGT	GRCh38
NC_000019.9:g.11218099_11218102delinsGTGT , CM000681.1:g.11218099_11218102delinsGTGT	GRCh37
NC_000019.8:g.11079099_11079102delinsGTGT	NCBI36
NG_009060.1:g.23043_23046delinsGTGT , LRG_274:g.23043_23046delinsGTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1107_1110delinsGTGT	ENSP00000252444.6:p.Lys369=
ENST00000559340.2:c.849_852delinsGTGT	ENSP00000453696.2:p.Lys283=
ENST00000560467.2:c.849_852delinsGTGT	ENSP00000453513.2:p.Lys283=
ENST00000558518.6:c.849_852delinsGTGT MANE Select	ENSP00000454071.1:p.Lys283=
ENST00000252444.9:c.1103_1106delinsGTGT
ENST00000455727.6:c.345_348delinsGTGT	ENSP00000397829.2:p.Lys115=
ENST00000535915.5:c.726_729delinsGTGT	ENSP00000440520.1:p.Lys242=
ENST00000545707.5:c.468_471delinsGTGT	ENSP00000437639.1:p.Lys156=
ENST00000557933.5:c.849_852delinsGTGT	ENSP00000453557.1:p.Lys283=
ENST00000558013.5:c.849_852delinsGTGT	ENSP00000453346.1:p.Lys283=
ENST00000558518.5:c.849_852delinsGTGT	ENSP00000454071.1:p.Lys283=
ENST00000558528.1:n.364_367delinsGTGT
ENST00000560467.1:c.449_452delinsGTGT
NM_000527.4:c.849_852delinsGTGT , LRG_274t1:c.849_852delinsGTGT	NP_000518.1:p.Lys283=
NM_001195798.1:c.849_852delinsGTGT	NP_001182727.1:p.Lys283=
NM_001195799.1:c.726_729delinsGTGT	NP_001182728.1:p.Lys242=
NM_001195800.1:c.345_348delinsGTGT	NP_001182729.1:p.Lys115=
NM_001195803.1:c.468_471delinsGTGT	NP_001182732.1:p.Lys156=
XM_011528010.1:c.849_852delinsGTGT	XP_011526312.1:p.Lys283=
XM_011528011.1:c.468_471delinsGTGT	XP_011526313.1:p.Lys156=
XR_244074.2:n.999_1002delinsGTGT
XM_011528010.2:c.849_852delinsGTGT	XP_011526312.1:p.Lys283=
XR_001753685.2:n.966_969delinsGTGT
XR_001753686.2:n.966_969delinsGTGT
NM_000527.5:c.849_852delinsGTGT MANE Select	NP_000518.1:p.Lys283=
NM_001195798.2:c.849_852delinsGTGT	NP_001182727.1:p.Lys283=
NM_001195799.2:c.726_729delinsGTGT	NP_001182728.1:p.Lys242=
NM_001195800.2:c.345_348delinsGTGT	NP_001182729.1:p.Lys115=
NM_001195803.2:c.468_471delinsGTGT	NP_001182732.1:p.Lys156=