Canonical Allele Identifier: CA2695238665

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113289_11113307del , CM000681.2:g.11113289_11113307del	GRCh38
NC_000019.9:g.11223965_11223983del , CM000681.1:g.11223965_11223983del	GRCh37
NC_000019.8:g.11084965_11084983del	NCBI36
NG_009060.1:g.28909_28927del , LRG_274:g.28909_28927del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1456_1474del	ENSP00000252444.6:p.Tyr486GlyfsTer7
ENST00000559340.2:c.1198_1216del	ENSP00000453696.2:p.Tyr400GlyfsTer7
ENST00000560467.2:c.1078_1096del	ENSP00000453513.2:p.Tyr360GlyfsTer7
ENST00000558518.6:c.1198_1216del MANE Select	ENSP00000454071.1:p.Tyr400GlyfsTer7
ENST00000252444.9:c.1452_1470del
ENST00000455727.6:c.694_712del	ENSP00000397829.2:p.Tyr232GlyfsTer7
ENST00000535915.5:c.1075_1093del	ENSP00000440520.1:p.Tyr359GlyfsTer7
ENST00000545707.5:c.817_835del	ENSP00000437639.1:p.Tyr273GlyfsTer7
ENST00000557933.5:c.1198_1216del	ENSP00000453557.1:p.Tyr400GlyfsTer7
ENST00000558013.5:c.1198_1216del	ENSP00000453346.1:p.Tyr400GlyfsTer7
ENST00000558518.5:c.1198_1216del	ENSP00000454071.1:p.Tyr400GlyfsTer7
ENST00000560173.1:n.197_215del
ENST00000560467.1:c.678_696del
NM_000527.4:c.1198_1216del , LRG_274t1:c.1198_1216del	NP_000518.1:p.Tyr400GlyfsTer7
NM_001195798.1:c.1198_1216del	NP_001182727.1:p.Tyr400GlyfsTer7
NM_001195799.1:c.1075_1093del	NP_001182728.1:p.Tyr359GlyfsTer7
NM_001195800.1:c.694_712del	NP_001182729.1:p.Tyr232GlyfsTer7
NM_001195803.1:c.817_835del	NP_001182732.1:p.Tyr273GlyfsTer7
XM_011528010.1:c.1198_1216del	XP_011526312.1:p.Tyr400GlyfsTer7
XM_011528011.1:c.817_835del	XP_011526313.1:p.Tyr273GlyfsTer7
XR_244074.2:n.1348_1366del
XM_011528010.2:c.1198_1216del	XP_011526312.1:p.Tyr400GlyfsTer7
XR_001753685.2:n.1315_1333del
XR_001753686.2:n.1315_1333del
NM_000527.5:c.1198_1216del MANE Select	NP_000518.1:p.Tyr400GlyfsTer7
NM_001195798.2:c.1198_1216del	NP_001182727.1:p.Tyr400GlyfsTer7
NM_001195799.2:c.1075_1093del	NP_001182728.1:p.Tyr359GlyfsTer7
NM_001195800.2:c.694_712del	NP_001182729.1:p.Tyr232GlyfsTer7
NM_001195803.2:c.817_835del	NP_001182732.1:p.Tyr273GlyfsTer7