Canonical Allele Identifier: CA2697556258

Gene: LDLR

Linked Data

• ClinVar Variation Id: 2768817
• ClinVar RCV Id: RCV003581999

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113594_11113608del , CM000681.2:g.11113594_11113608del	GRCh38
NC_000019.9:g.11224270_11224284del , CM000681.1:g.11224270_11224284del	GRCh37
NC_000019.8:g.11085270_11085284del	NCBI36
NG_009060.1:g.29214_29228del , LRG_274:g.29214_29228del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1676_1690del	ENSP00000252444.6:p.Ile559_Gly564delinsAr...
ENST00000559340.2:c.1418_1432del	ENSP00000453696.2:p.Ile473_Gly478delinsAr...
ENST00000560467.2:c.1298_1312del	ENSP00000453513.2:p.Ile433_Gly438delinsAr...
ENST00000558518.6:c.1418_1432del MANE Select	ENSP00000454071.1:p.Ile473_Gly478delinsAr...
ENST00000252444.9:c.1672_1686del
ENST00000455727.6:c.914_928del	ENSP00000397829.2:p.Ile305_Gly310delinsAr...
ENST00000535915.5:c.1295_1309del	ENSP00000440520.1:p.Ile432_Gly437delinsAr...
ENST00000545707.5:c.1037_1051del	ENSP00000437639.1:p.Ile346_Gly351delinsAr...
ENST00000557933.5:c.1418_1432del	ENSP00000453557.1:p.Ile473_Gly478delinsAr...
ENST00000558013.5:c.1418_1432del	ENSP00000453346.1:p.Ile473_Gly478delinsAr...
ENST00000558518.5:c.1418_1432del	ENSP00000454071.1:p.Ile473_Gly478delinsAr...
ENST00000559340.1:c.139_153del
ENST00000560467.1:c.898_912del
NM_000527.4:c.1418_1432del , LRG_274t1:c.1418_1432del	NP_000518.1:p.Ile473_Gly478delinsArg
NM_001195798.1:c.1418_1432del	NP_001182727.1:p.Ile473_Gly478delinsArg
NM_001195799.1:c.1295_1309del	NP_001182728.1:p.Ile432_Gly437delinsArg
NM_001195800.1:c.914_928del	NP_001182729.1:p.Ile305_Gly310delinsArg
NM_001195803.1:c.1037_1051del	NP_001182732.1:p.Ile346_Gly351delinsArg
XM_011528010.1:c.1418_1432del	XP_011526312.1:p.Ile473_Gly478delinsArg
XM_011528011.1:c.1037_1051del	XP_011526313.1:p.Ile346_Gly351delinsArg
XR_244074.2:n.1568_1582del
XM_011528010.2:c.1418_1432del	XP_011526312.1:p.Ile473_Gly478delinsArg
XR_001753685.2:n.1535_1549del
XR_001753686.2:n.1535_1549del
NM_000527.5:c.1418_1432del MANE Select	NP_000518.1:p.Ile473_Gly478delinsArg
NM_001195798.2:c.1418_1432del	NP_001182727.1:p.Ile473_Gly478delinsArg
NM_001195799.2:c.1295_1309del	NP_001182728.1:p.Ile432_Gly437delinsArg
NM_001195800.2:c.914_928del	NP_001182729.1:p.Ile305_Gly310delinsArg
NM_001195803.2:c.1037_1051del	NP_001182732.1:p.Ile346_Gly351delinsArg