Canonical Allele Identifier: CA2322771884

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113548_11113557delinsAGAGCCCACG , CM000681.2:g.11113548_11113557delinsAGAGCCCACG	GRCh38
NC_000019.9:g.11224224_11224233delinsAGAGCCCACG , CM000681.1:g.11224224_11224233delinsAGAGCCCACG	GRCh37
NC_000019.8:g.11085224_11085233delinsAGAGCCCACG	NCBI36
NG_009060.1:g.29168_29177delinsAGAGCCCACG , LRG_274:g.29168_29177delinsAGAGCCCACG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1630_1639delinsAGAGCCCACG	ENSP00000252444.6:p.Arg544=
ENST00000559340.2:c.1372_1381delinsAGAGCCCACG	ENSP00000453696.2:p.Arg458=
ENST00000560467.2:c.1252_1261delinsAGAGCCCACG	ENSP00000453513.2:p.Arg418=
ENST00000558518.6:c.1372_1381delinsAGAGCCCACG MANE Select	ENSP00000454071.1:p.Arg458=
ENST00000252444.9:c.1626_1635delinsAGAGCCCACG
ENST00000455727.6:c.868_877delinsAGAGCCCACG	ENSP00000397829.2:p.Arg290=
ENST00000535915.5:c.1249_1258delinsAGAGCCCACG	ENSP00000440520.1:p.Arg417=
ENST00000545707.5:c.991_1000delinsAGAGCCCACG	ENSP00000437639.1:p.Arg331=
ENST00000557933.5:c.1372_1381delinsAGAGCCCACG	ENSP00000453557.1:p.Arg458=
ENST00000558013.5:c.1372_1381delinsAGAGCCCACG	ENSP00000453346.1:p.Arg458=
ENST00000558518.5:c.1372_1381delinsAGAGCCCACG	ENSP00000454071.1:p.Arg458=
ENST00000559340.1:c.93_102delinsAGAGCCCACG
ENST00000560467.1:c.852_861delinsAGAGCCCACG
NM_000527.4:c.1372_1381delinsAGAGCCCACG , LRG_274t1:c.1372_1381delinsAGAGCCCACG	NP_000518.1:p.Arg458=
NM_001195798.1:c.1372_1381delinsAGAGCCCACG	NP_001182727.1:p.Arg458=
NM_001195799.1:c.1249_1258delinsAGAGCCCACG	NP_001182728.1:p.Arg417=
NM_001195800.1:c.868_877delinsAGAGCCCACG	NP_001182729.1:p.Arg290=
NM_001195803.1:c.991_1000delinsAGAGCCCACG	NP_001182732.1:p.Arg331=
XM_011528010.1:c.1372_1381delinsAGAGCCCACG	XP_011526312.1:p.Arg458=
XM_011528011.1:c.991_1000delinsAGAGCCCACG	XP_011526313.1:p.Arg331=
XR_244074.2:n.1522_1531delinsAGAGCCCACG
XM_011528010.2:c.1372_1381delinsAGAGCCCACG	XP_011526312.1:p.Arg458=
XR_001753685.2:n.1489_1498delinsAGAGCCCACG
XR_001753686.2:n.1489_1498delinsAGAGCCCACG
NM_000527.5:c.1372_1381delinsAGAGCCCACG MANE Select	NP_000518.1:p.Arg458=
NM_001195798.2:c.1372_1381delinsAGAGCCCACG	NP_001182727.1:p.Arg458=
NM_001195799.2:c.1249_1258delinsAGAGCCCACG	NP_001182728.1:p.Arg417=
NM_001195800.2:c.868_877delinsAGAGCCCACG	NP_001182729.1:p.Arg290=
NM_001195803.2:c.991_1000delinsAGAGCCCACG	NP_001182732.1:p.Arg331=