Canonical Allele Identifier: CA2322772028

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113722_11113729delinsGGCTCCAA , CM000681.2:g.11113722_11113729delinsGGCTCCAA	GRCh38
NC_000019.9:g.11224398_11224405delinsGGCTCCAA , CM000681.1:g.11224398_11224405delinsGGCTCCAA	GRCh37
NC_000019.8:g.11085398_11085405delinsGGCTCCAA	NCBI36
NG_009060.1:g.29342_29349delinsGGCTCCAA , LRG_274:g.29342_29349delinsGGCTCCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1804_1811delinsGGCTCCAA	ENSP00000252444.6:p.Gly602=
ENST00000559340.2:c.1546_1553delinsGGCTCCAA	ENSP00000453696.2:p.Gly516=
ENST00000560467.2:c.1426_1433delinsGGCTCCAA	ENSP00000453513.2:p.Gly476=
ENST00000558518.6:c.1546_1553delinsGGCTCCAA MANE Select	ENSP00000454071.1:p.Gly516=
ENST00000252444.9:c.1800_1807delinsGGCTCCAA
ENST00000455727.6:c.1042_1049delinsGGCTCCAA	ENSP00000397829.2:p.Gly348=
ENST00000535915.5:c.1423_1430delinsGGCTCCAA	ENSP00000440520.1:p.Gly475=
ENST00000545707.5:c.1165_1172delinsGGCTCCAA	ENSP00000437639.1:p.Gly389=
ENST00000557933.5:c.1546_1553delinsGGCTCCAA	ENSP00000453557.1:p.Gly516=
ENST00000558013.5:c.1546_1553delinsGGCTCCAA	ENSP00000453346.1:p.Gly516=
ENST00000558518.5:c.1546_1553delinsGGCTCCAA	ENSP00000454071.1:p.Gly516=
ENST00000559340.1:c.267_274delinsGGCTCCAA
NM_000527.4:c.1546_1553delinsGGCTCCAA , LRG_274t1:c.1546_1553delinsGGCTCCAA	NP_000518.1:p.Gly516=
NM_001195798.1:c.1546_1553delinsGGCTCCAA	NP_001182727.1:p.Gly516=
NM_001195799.1:c.1423_1430delinsGGCTCCAA	NP_001182728.1:p.Gly475=
NM_001195800.1:c.1042_1049delinsGGCTCCAA	NP_001182729.1:p.Gly348=
NM_001195803.1:c.1165_1172delinsGGCTCCAA	NP_001182732.1:p.Gly389=
XM_011528010.1:c.1546_1553delinsGGCTCCAA	XP_011526312.1:p.Gly516=
XM_011528011.1:c.1165_1172delinsGGCTCCAA	XP_011526313.1:p.Gly389=
XR_244074.2:n.1696_1703delinsGGCTCCAA
XM_011528010.2:c.1546_1553delinsGGCTCCAA	XP_011526312.1:p.Gly516=
XR_001753685.2:n.1663_1670delinsGGCTCCAA
XR_001753686.2:n.1663_1670delinsGGCTCCAA
NM_000527.5:c.1546_1553delinsGGCTCCAA MANE Select	NP_000518.1:p.Gly516=
NM_001195798.2:c.1546_1553delinsGGCTCCAA	NP_001182727.1:p.Gly516=
NM_001195799.2:c.1423_1430delinsGGCTCCAA	NP_001182728.1:p.Gly475=
NM_001195800.2:c.1042_1049delinsGGCTCCAA	NP_001182729.1:p.Gly348=
NM_001195803.2:c.1165_1172delinsGGCTCCAA	NP_001182732.1:p.Gly389=