Canonical Allele Identifier: CA2322773641

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11116867_11116872delinsAGTGGC , CM000681.2:g.11116867_11116872delinsAGTGGC	GRCh38
NC_000019.9:g.11227543_11227548delinsAGTGGC , CM000681.1:g.11227543_11227548delinsAGTGGC	GRCh37
NC_000019.8:g.11088543_11088548delinsAGTGGC	NCBI36
NG_009060.1:g.32487_32492delinsAGTGGC , LRG_274:g.32487_32492delinsAGTGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1972_1977delinsAGTGGC	ENSP00000252444.6:p.Ser658=
ENST00000559340.2:c.1705+655_1705+660delinsAGTGGC	ENSP00000453696.2:n.1705+655_1705+660delinsAGTGGC
ENST00000560467.2:c.1594_1599delinsAGTGGC	ENSP00000453513.2:p.Ser532=
ENST00000558518.6:c.1714_1719delinsAGTGGC MANE Select	ENSP00000454071.1:p.Ser572=
ENST00000252444.9:c.1968_1973delinsAGTGGC
ENST00000455727.6:c.1210_1215delinsAGTGGC	ENSP00000397829.2:p.Ser404=
ENST00000535915.5:c.1591_1596delinsAGTGGC	ENSP00000440520.1:p.Ser531=
ENST00000545707.5:c.1333_1338delinsAGTGGC	ENSP00000437639.1:p.Ser445=
ENST00000557933.5:c.1714_1719delinsAGTGGC	ENSP00000453557.1:p.Ser572=
ENST00000558013.5:c.1714_1719delinsAGTGGC	ENSP00000453346.1:p.Ser572=
ENST00000558518.5:c.1714_1719delinsAGTGGC	ENSP00000454071.1:p.Ser572=
ENST00000559340.1:c.426+655_426+660delinsAGTGGC
NM_000527.4:c.1714_1719delinsAGTGGC , LRG_274t1:c.1714_1719delinsAGTGGC	NP_000518.1:p.Ser572=
NM_001195798.1:c.1714_1719delinsAGTGGC	NP_001182727.1:p.Ser572=
NM_001195799.1:c.1591_1596delinsAGTGGC	NP_001182728.1:p.Ser531=
NM_001195800.1:c.1210_1215delinsAGTGGC	NP_001182729.1:p.Ser404=
NM_001195803.1:c.1333_1338delinsAGTGGC	NP_001182732.1:p.Ser445=
XM_011528010.1:c.1714_1719delinsAGTGGC	XP_011526312.1:p.Ser572=
XM_011528011.1:c.1333_1338delinsAGTGGC	XP_011526313.1:p.Ser445=
XR_244074.2:n.1855+655_1855+660delinsAGTGGC
XM_011528010.2:c.1714_1719delinsAGTGGC	XP_011526312.1:p.Ser572=
XR_001753685.2:n.1831_1836delinsAGTGGC
XR_001753686.2:n.1822+655_1822+660delinsAGTGGC
NM_000527.5:c.1714_1719delinsAGTGGC MANE Select	NP_000518.1:p.Ser572=
NM_001195798.2:c.1714_1719delinsAGTGGC	NP_001182727.1:p.Ser572=
NM_001195799.2:c.1591_1596delinsAGTGGC	NP_001182728.1:p.Ser531=
NM_001195800.2:c.1210_1215delinsAGTGGC	NP_001182729.1:p.Ser404=
NM_001195803.2:c.1333_1338delinsAGTGGC	NP_001182732.1:p.Ser445=