Canonical Allele Identifier: CA2695228154

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11111603_11111611delinsTAGCTGGAG , CM000681.2:g.11111603_11111611delinsTAGCTGGAG	GRCh38
NC_000019.9:g.11222279_11222287delinsTAGCTGGAG , CM000681.1:g.11222279_11222287delinsTAGCTGGAG	GRCh37
NC_000019.8:g.11083279_11083287delinsTAGCTGGAG	NCBI36
NG_009060.1:g.27223_27231delinsTAGCTGGAG , LRG_274:g.27223_27231delinsTAGCTGGAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1408_1416delinsTAGCTGGAG	ENSP00000252444.6:p.Gln470Ter
ENST00000559340.2:c.1150_1158delinsTAGCTGGAG	ENSP00000453696.2:p.Gln384Ter
ENST00000560467.2:c.1030_1038delinsTAGCTGGAG	ENSP00000453513.2:p.Gln344Ter
ENST00000558518.6:c.1150_1158delinsTAGCTGGAG MANE Select	ENSP00000454071.1:p.Gln384Ter
ENST00000252444.9:c.1404_1412delinsTAGCTGGAG
ENST00000455727.6:c.646_654delinsTAGCTGGAG	ENSP00000397829.2:p.Gln216Ter
ENST00000535915.5:c.1027_1035delinsTAGCTGGAG	ENSP00000440520.1:p.Gln343Ter
ENST00000545707.5:c.769_777delinsTAGCTGGAG	ENSP00000437639.1:p.Gln257Ter
ENST00000557933.5:c.1150_1158delinsTAGCTGGAG	ENSP00000453557.1:p.Gln384Ter
ENST00000558013.5:c.1150_1158delinsTAGCTGGAG	ENSP00000453346.1:p.Gln384Ter
ENST00000558518.5:c.1150_1158delinsTAGCTGGAG	ENSP00000454071.1:p.Gln384Ter
ENST00000560173.1:n.149_157delinsTAGCTGGAG
ENST00000560467.1:c.630_638delinsTAGCTGGAG
NM_000527.4:c.1150_1158delinsTAGCTGGAG , LRG_274t1:c.1150_1158delinsTAGCTGGAG	NP_000518.1:p.Gln384Ter
NM_001195798.1:c.1150_1158delinsTAGCTGGAG	NP_001182727.1:p.Gln384Ter
NM_001195799.1:c.1027_1035delinsTAGCTGGAG	NP_001182728.1:p.Gln343Ter
NM_001195800.1:c.646_654delinsTAGCTGGAG	NP_001182729.1:p.Gln216Ter
NM_001195803.1:c.769_777delinsTAGCTGGAG	NP_001182732.1:p.Gln257Ter
XM_011528010.1:c.1150_1158delinsTAGCTGGAG	XP_011526312.1:p.Gln384Ter
XM_011528011.1:c.769_777delinsTAGCTGGAG	XP_011526313.1:p.Gln257Ter
XR_244074.2:n.1300_1308delinsTAGCTGGAG
XM_011528010.2:c.1150_1158delinsTAGCTGGAG	XP_011526312.1:p.Gln384Ter
XR_001753685.2:n.1267_1275delinsTAGCTGGAG
XR_001753686.2:n.1267_1275delinsTAGCTGGAG
NM_000527.5:c.1150_1158delinsTAGCTGGAG MANE Select	NP_000518.1:p.Gln384Ter
NM_001195798.2:c.1150_1158delinsTAGCTGGAG	NP_001182727.1:p.Gln384Ter
NM_001195799.2:c.1027_1035delinsTAGCTGGAG	NP_001182728.1:p.Gln343Ter
NM_001195800.2:c.646_654delinsTAGCTGGAG	NP_001182729.1:p.Gln216Ter
NM_001195803.2:c.769_777delinsTAGCTGGAG	NP_001182732.1:p.Gln257Ter