Canonical Allele Identifier: CA2695228178

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113594_11113595delinsAA , CM000681.2:g.11113594_11113595delinsAA	GRCh38
NC_000019.9:g.11224270_11224271delinsAA , CM000681.1:g.11224270_11224271delinsAA	GRCh37
NC_000019.8:g.11085270_11085271delinsAA	NCBI36
NG_009060.1:g.29214_29215delinsAA , LRG_274:g.29214_29215delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1676_1677delinsAA	ENSP00000252444.6:p.Ile559Lys
ENST00000559340.2:c.1418_1419delinsAA	ENSP00000453696.2:p.Ile473Lys
ENST00000560467.2:c.1298_1299delinsAA	ENSP00000453513.2:p.Ile433Lys
ENST00000558518.6:c.1418_1419delinsAA MANE Select	ENSP00000454071.1:p.Ile473Lys
ENST00000252444.9:c.1672_1673delinsAA
ENST00000455727.6:c.914_915delinsAA	ENSP00000397829.2:p.Ile305Lys
ENST00000535915.5:c.1295_1296delinsAA	ENSP00000440520.1:p.Ile432Lys
ENST00000545707.5:c.1037_1038delinsAA	ENSP00000437639.1:p.Ile346Lys
ENST00000557933.5:c.1418_1419delinsAA	ENSP00000453557.1:p.Ile473Lys
ENST00000558013.5:c.1418_1419delinsAA	ENSP00000453346.1:p.Ile473Lys
ENST00000558518.5:c.1418_1419delinsAA	ENSP00000454071.1:p.Ile473Lys
ENST00000559340.1:c.139_140delinsAA
ENST00000560467.1:c.898_899delinsAA
NM_000527.4:c.1418_1419delinsAA , LRG_274t1:c.1418_1419delinsAA	NP_000518.1:p.Ile473Lys
NM_001195798.1:c.1418_1419delinsAA	NP_001182727.1:p.Ile473Lys
NM_001195799.1:c.1295_1296delinsAA	NP_001182728.1:p.Ile432Lys
NM_001195800.1:c.914_915delinsAA	NP_001182729.1:p.Ile305Lys
NM_001195803.1:c.1037_1038delinsAA	NP_001182732.1:p.Ile346Lys
XM_011528010.1:c.1418_1419delinsAA	XP_011526312.1:p.Ile473Lys
XM_011528011.1:c.1037_1038delinsAA	XP_011526313.1:p.Ile346Lys
XR_244074.2:n.1568_1569delinsAA
XM_011528010.2:c.1418_1419delinsAA	XP_011526312.1:p.Ile473Lys
XR_001753685.2:n.1535_1536delinsAA
XR_001753686.2:n.1535_1536delinsAA
NM_000527.5:c.1418_1419delinsAA MANE Select	NP_000518.1:p.Ile473Lys
NM_001195798.2:c.1418_1419delinsAA	NP_001182727.1:p.Ile473Lys
NM_001195799.2:c.1295_1296delinsAA	NP_001182728.1:p.Ile432Lys
NM_001195800.2:c.914_915delinsAA	NP_001182729.1:p.Ile305Lys
NM_001195803.2:c.1037_1038delinsAA	NP_001182732.1:p.Ile346Lys