Canonical Allele Identifier: CA2322768647

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11107497_11107504delinsAACCCATC , CM000681.2:g.11107497_11107504delinsAACCCATC	GRCh38
NC_000019.9:g.11218173_11218180delinsAACCCATC , CM000681.1:g.11218173_11218180delinsAACCCATC	GRCh37
NC_000019.8:g.11079173_11079180delinsAACCCATC	NCBI36
NG_009060.1:g.23117_23124delinsAACCCATC , LRG_274:g.23117_23124delinsAACCCATC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1181_1188delinsAACCCATC	ENSP00000252444.6:p.Glu394=
ENST00000559340.2:c.923_930delinsAACCCATC	ENSP00000453696.2:p.Glu308=
ENST00000560467.2:c.923_930delinsAACCCATC	ENSP00000453513.2:p.Glu308=
ENST00000558518.6:c.923_930delinsAACCCATC MANE Select	ENSP00000454071.1:p.Glu308=
ENST00000252444.9:c.1177_1184delinsAACCCATC
ENST00000455727.6:c.419_426delinsAACCCATC	ENSP00000397829.2:p.Glu140=
ENST00000535915.5:c.800_807delinsAACCCATC	ENSP00000440520.1:p.Glu267=
ENST00000545707.5:c.542_549delinsAACCCATC	ENSP00000437639.1:p.Glu181=
ENST00000557933.5:c.923_930delinsAACCCATC	ENSP00000453557.1:p.Glu308=
ENST00000558013.5:c.923_930delinsAACCCATC	ENSP00000453346.1:p.Glu308=
ENST00000558518.5:c.923_930delinsAACCCATC	ENSP00000454071.1:p.Glu308=
ENST00000558528.1:n.438_445delinsAACCCATC
ENST00000560467.1:c.523_530delinsAACCCATC
NM_000527.4:c.923_930delinsAACCCATC , LRG_274t1:c.923_930delinsAACCCATC	NP_000518.1:p.Glu308=
NM_001195798.1:c.923_930delinsAACCCATC	NP_001182727.1:p.Glu308=
NM_001195799.1:c.800_807delinsAACCCATC	NP_001182728.1:p.Glu267=
NM_001195800.1:c.419_426delinsAACCCATC	NP_001182729.1:p.Glu140=
NM_001195803.1:c.542_549delinsAACCCATC	NP_001182732.1:p.Glu181=
XM_011528010.1:c.923_930delinsAACCCATC	XP_011526312.1:p.Glu308=
XM_011528011.1:c.542_549delinsAACCCATC	XP_011526313.1:p.Glu181=
XR_244074.2:n.1073_1080delinsAACCCATC
XM_011528010.2:c.923_930delinsAACCCATC	XP_011526312.1:p.Glu308=
XR_001753685.2:n.1040_1047delinsAACCCATC
XR_001753686.2:n.1040_1047delinsAACCCATC
NM_000527.5:c.923_930delinsAACCCATC MANE Select	NP_000518.1:p.Glu308=
NM_001195798.2:c.923_930delinsAACCCATC	NP_001182727.1:p.Glu308=
NM_001195799.2:c.800_807delinsAACCCATC	NP_001182728.1:p.Glu267=
NM_001195800.2:c.419_426delinsAACCCATC	NP_001182729.1:p.Glu140=
NM_001195803.2:c.542_549delinsAACCCATC	NP_001182732.1:p.Glu181=