Canonical Allele Identifier: CA2322775087

Gene: LDLR

Linked Data

• dbSNP Id: rs2077514283

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11119638_11119639insCTAATTTTTGTATTTTTAGT , CM000681.2:g.11119638_11119639insCTAATTTTTGTATTTTTAGT	GRCh38
NC_000019.9:g.11230314_11230315insCTAATTTTTGTATTTTTAGT , CM000681.1:g.11230314_11230315insCTAATTTTTGTATTTTTAGT	GRCh37
NC_000019.8:g.11091314_11091315insCTAATTTTTGTATTTTTAGT	NCBI36
NG_009060.1:g.35258_35259insCTAATTTTTGTATTTTTAGT , LRG_274:g.35258_35259insCTAATTTTTGTATTTTTAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2104-454_2104-453insCTAATTTTTGTATTTTTAGT	ENSP00000252444.6:n.2104-454_2104-453insCTAATTTTTGTATTTTTAGT
ENST00000559340.2:c.1706-454_1706-453insCTAATTTTTGTATTTTTAGT	ENSP00000453696.2:n.1706-454_1706-453insCTAATTTTTGTATTTTTAGT
ENST00000560467.2:c.1726-454_1726-453insCTAATTTTTGTATTTTTAGT	ENSP00000453513.2:n.1726-454_1726-453insCTAATTTTTGTATTTTTAGT
ENST00000558518.6:c.1846-454_1846-453insCTAATTTTTGTATTTTTAGT MANE Select	ENSP00000454071.1:n.1846-454_1846-453insCTAATTTTTGTATTTTTAGT
ENST00000252444.9:c.2100-454_2100-453insCTAATTTTTGTATTTTTAGT
ENST00000455727.6:c.1342-454_1342-453insCTAATTTTTGTATTTTTAGT	ENSP00000397829.2:n.1342-454_1342-453insCTAATTTTTGTATTTTTAGT
ENST00000535915.5:c.1723-454_1723-453insCTAATTTTTGTATTTTTAGT	ENSP00000440520.1:n.1723-454_1723-453insCTAATTTTTGTATTTTTAGT
ENST00000545707.5:c.1465-454_1465-453insCTAATTTTTGTATTTTTAGT	ENSP00000437639.1:n.1465-454_1465-453insCTAATTTTTGTATTTTTAGT
ENST00000557933.5:c.1846-454_1846-453insCTAATTTTTGTATTTTTAGT	ENSP00000453557.1:n.1846-454_1846-453insCTAATTTTTGTATTTTTAGT
ENST00000558013.5:c.1846-454_1846-453insCTAATTTTTGTATTTTTAGT	ENSP00000453346.1:n.1846-454_1846-453insCTAATTTTTGTATTTTTAGT
ENST00000558518.5:c.1846-454_1846-453insCTAATTTTTGTATTTTTAGT	ENSP00000454071.1:n.1846-454_1846-453insCTAATTTTTGTATTTTTAGT
ENST00000559340.1:c.427-454_427-453insCTAATTTTTGTATTTTTAGT
NM_000527.4:c.1846-454_1846-453insCTAATTTTTGTATTTTTAGT , LRG_274t1:c.1846-454_1846-453insCTAATTTTTGTATTTTTAGT	NP_000518.1:n.1846-454_1846-453insCTAATTTTTGTATTTTTAGT
NM_001195798.1:c.1846-454_1846-453insCTAATTTTTGTATTTTTAGT	NP_001182727.1:n.1846-454_1846-453insCTAATTTTTGTATTTTTAGT
NM_001195799.1:c.1723-454_1723-453insCTAATTTTTGTATTTTTAGT	NP_001182728.1:n.1723-454_1723-453insCTAATTTTTGTATTTTTAGT
NM_001195800.1:c.1342-454_1342-453insCTAATTTTTGTATTTTTAGT	NP_001182729.1:n.1342-454_1342-453insCTAATTTTTGTATTTTTAGT
NM_001195803.1:c.1465-454_1465-453insCTAATTTTTGTATTTTTAGT	NP_001182732.1:n.1465-454_1465-453insCTAATTTTTGTATTTTTAGT
XM_011528010.1:c.1846-454_1846-453insCTAATTTTTGTATTTTTAGT	XP_011526312.1:n.1846-454_1846-453insCTAATTTTTGTATTTTTAGT
XM_011528011.1:c.1465-454_1465-453insCTAATTTTTGTATTTTTAGT	XP_011526313.1:n.1465-454_1465-453insCTAATTTTTGTATTTTTAGT
XR_244074.2:n.1856-454_1856-453insCTAATTTTTGTATTTTTAGT
XM_011528010.2:c.1846-454_1846-453insCTAATTTTTGTATTTTTAGT	XP_011526312.1:n.1846-454_1846-453insCTAATTTTTGTATTTTTAGT
XR_001753685.2:n.1963-454_1963-453insCTAATTTTTGTATTTTTAGT
XR_001753686.2:n.1823-454_1823-453insCTAATTTTTGTATTTTTAGT
NM_000527.5:c.1846-454_1846-453insCTAATTTTTGTATTTTTAGT MANE Select	NP_000518.1:n.1846-454_1846-453insCTAATTTTTGTATTTTTAGT
NM_001195798.2:c.1846-454_1846-453insCTAATTTTTGTATTTTTAGT	NP_001182727.1:n.1846-454_1846-453insCTAATTTTTGTATTTTTAGT
NM_001195799.2:c.1723-454_1723-453insCTAATTTTTGTATTTTTAGT	NP_001182728.1:n.1723-454_1723-453insCTAATTTTTGTATTTTTAGT
NM_001195800.2:c.1342-454_1342-453insCTAATTTTTGTATTTTTAGT	NP_001182729.1:n.1342-454_1342-453insCTAATTTTTGTATTTTTAGT
NM_001195803.2:c.1465-454_1465-453insCTAATTTTTGTATTTTTAGT	NP_001182732.1:n.1465-454_1465-453insCTAATTTTTGTATTTTTAGT