Canonical Allele Identifier: CA2322772017

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113704_11113705delinsAC , CM000681.2:g.11113704_11113705delinsAC	GRCh38
NC_000019.9:g.11224380_11224381delinsAC , CM000681.1:g.11224380_11224381delinsAC	GRCh37
NC_000019.8:g.11085380_11085381delinsAC	NCBI36
NG_009060.1:g.29324_29325delinsAC , LRG_274:g.29324_29325delinsAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1786_1787delinsAC	ENSP00000252444.6:p.Thr596=
ENST00000559340.2:c.1528_1529delinsAC	ENSP00000453696.2:p.Thr510=
ENST00000560467.2:c.1408_1409delinsAC	ENSP00000453513.2:p.Thr470=
ENST00000558518.6:c.1528_1529delinsAC MANE Select	ENSP00000454071.1:p.Thr510=
ENST00000252444.9:c.1782_1783delinsAC
ENST00000455727.6:c.1024_1025delinsAC	ENSP00000397829.2:p.Thr342=
ENST00000535915.5:c.1405_1406delinsAC	ENSP00000440520.1:p.Thr469=
ENST00000545707.5:c.1147_1148delinsAC	ENSP00000437639.1:p.Thr383=
ENST00000557933.5:c.1528_1529delinsAC	ENSP00000453557.1:p.Thr510=
ENST00000558013.5:c.1528_1529delinsAC	ENSP00000453346.1:p.Thr510=
ENST00000558518.5:c.1528_1529delinsAC	ENSP00000454071.1:p.Thr510=
ENST00000559340.1:c.249_250delinsAC
NM_000527.4:c.1528_1529delinsAC , LRG_274t1:c.1528_1529delinsAC	NP_000518.1:p.Thr510=
NM_001195798.1:c.1528_1529delinsAC	NP_001182727.1:p.Thr510=
NM_001195799.1:c.1405_1406delinsAC	NP_001182728.1:p.Thr469=
NM_001195800.1:c.1024_1025delinsAC	NP_001182729.1:p.Thr342=
NM_001195803.1:c.1147_1148delinsAC	NP_001182732.1:p.Thr383=
XM_011528010.1:c.1528_1529delinsAC	XP_011526312.1:p.Thr510=
XM_011528011.1:c.1147_1148delinsAC	XP_011526313.1:p.Thr383=
XR_244074.2:n.1678_1679delinsAC
XM_011528010.2:c.1528_1529delinsAC	XP_011526312.1:p.Thr510=
XR_001753685.2:n.1645_1646delinsAC
XR_001753686.2:n.1645_1646delinsAC
NM_000527.5:c.1528_1529delinsAC MANE Select	NP_000518.1:p.Thr510=
NM_001195798.2:c.1528_1529delinsAC	NP_001182727.1:p.Thr510=
NM_001195799.2:c.1405_1406delinsAC	NP_001182728.1:p.Thr469=
NM_001195800.2:c.1024_1025delinsAC	NP_001182729.1:p.Thr342=
NM_001195803.2:c.1147_1148delinsAC	NP_001182732.1:p.Thr383=