Canonical Allele Identifier: CA2322771760

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113376_11113417delinsGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTAC , CM000681.2:g.11113376_11113417delinsGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTAC	GRCh38
NC_000019.9:g.11224052_11224093delinsGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTAC , CM000681.1:g.11224052_11224093delinsGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTAC	GRCh37
NC_000019.8:g.11085052_11085093delinsGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTAC	NCBI36
NG_009060.1:g.28996_29037delinsGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTAC , LRG_274:g.28996_29037delinsGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1543_1584delinsGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTAC	ENSP00000252444.6:p.Val515=
ENST00000559340.2:c.1285_1326delinsGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTAC	ENSP00000453696.2:p.Val429=
ENST00000560467.2:c.1165_1206delinsGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTAC	ENSP00000453513.2:p.Val389=
ENST00000558518.6:c.1285_1326delinsGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTAC MANE Select	ENSP00000454071.1:p.Val429=
ENST00000252444.9:c.1539_1580delinsGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTAC
ENST00000455727.6:c.781_822delinsGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTAC	ENSP00000397829.2:p.Val261=
ENST00000535915.5:c.1162_1203delinsGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTAC	ENSP00000440520.1:p.Val388=
ENST00000545707.5:c.904_945delinsGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTAC	ENSP00000437639.1:p.Val302=
ENST00000557933.5:c.1285_1326delinsGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTAC	ENSP00000453557.1:p.Val429=
ENST00000558013.5:c.1285_1326delinsGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTAC	ENSP00000453346.1:p.Val429=
ENST00000558518.5:c.1285_1326delinsGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTAC	ENSP00000454071.1:p.Val429=
ENST00000559340.1:c.6_47delinsGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTAC
ENST00000560173.1:n.284_325delinsGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTAC
ENST00000560467.1:c.765_806delinsGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTAC
NM_000527.4:c.1285_1326delinsGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTAC , LRG_274t1:c.1285_1326delinsGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTAC	NP_000518.1:p.Val429=
NM_001195798.1:c.1285_1326delinsGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTAC	NP_001182727.1:p.Val429=
NM_001195799.1:c.1162_1203delinsGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTAC	NP_001182728.1:p.Val388=
NM_001195800.1:c.781_822delinsGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTAC	NP_001182729.1:p.Val261=
NM_001195803.1:c.904_945delinsGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTAC	NP_001182732.1:p.Val302=
XM_011528010.1:c.1285_1326delinsGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTAC	XP_011526312.1:p.Val429=
XM_011528011.1:c.904_945delinsGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTAC	XP_011526313.1:p.Val302=
XR_244074.2:n.1435_1476delinsGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTAC
XM_011528010.2:c.1285_1326delinsGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTAC	XP_011526312.1:p.Val429=
XR_001753685.2:n.1402_1443delinsGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTAC
XR_001753686.2:n.1402_1443delinsGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTAC
NM_000527.5:c.1285_1326delinsGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTAC MANE Select	NP_000518.1:p.Val429=
NM_001195798.2:c.1285_1326delinsGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTAC	NP_001182727.1:p.Val429=
NM_001195799.2:c.1162_1203delinsGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTAC	NP_001182728.1:p.Val388=
NM_001195800.2:c.781_822delinsGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTAC	NP_001182729.1:p.Val261=
NM_001195803.2:c.904_945delinsGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTAC	NP_001182732.1:p.Val302=