Canonical Allele Identifier: CA2695228112

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11106574_11106660del , CM000681.2:g.11106574_11106660del	GRCh38
NC_000019.9:g.11217250_11217336del , CM000681.1:g.11217250_11217336del	GRCh37
NC_000019.8:g.11078250_11078336del	NCBI36
NG_009060.1:g.22194_22280del , LRG_274:g.22194_22280del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.962_1048del	ENSP00000252444.6:p.Thr321_Asp349del
ENST00000559340.2:c.704_790del	ENSP00000453696.2:p.Thr235_Asp263del
ENST00000560467.2:c.704_790del	ENSP00000453513.2:p.Thr235_Asp263del
ENST00000558518.6:c.704_790del MANE Select	ENSP00000454071.1:p.Thr235_Asp263del
ENST00000252444.9:c.958_1044del
ENST00000455727.6:c.314-818_314-732del	ENSP00000397829.2:n.314-818_314-732del
ENST00000535915.5:c.581_667del	ENSP00000440520.1:p.Thr194_Asp222del
ENST00000545707.5:c.323_409del	ENSP00000437639.1:p.Thr108_Asp136del
ENST00000557933.5:c.704_790del	ENSP00000453557.1:p.Thr235_Asp263del
ENST00000558013.5:c.704_790del	ENSP00000453346.1:p.Thr235_Asp263del
ENST00000558518.5:c.704_790del	ENSP00000454071.1:p.Thr235_Asp263del
ENST00000558528.1:n.219_305del
ENST00000560467.1:c.304_390del
NM_000527.4:c.704_790del , LRG_274t1:c.704_790del	NP_000518.1:p.Thr235_Asp263del
NM_001195798.1:c.704_790del	NP_001182727.1:p.Thr235_Asp263del
NM_001195799.1:c.581_667del	NP_001182728.1:p.Thr194_Asp222del
NM_001195800.1:c.314-818_314-732del	NP_001182729.1:n.314-818_314-732del
NM_001195803.1:c.323_409del	NP_001182732.1:p.Thr108_Asp136del
XM_011528010.1:c.704_790del	XP_011526312.1:p.Thr235_Asp263del
XM_011528011.1:c.323_409del	XP_011526313.1:p.Thr108_Asp136del
XR_244074.2:n.854_940del
XM_011528010.2:c.704_790del	XP_011526312.1:p.Thr235_Asp263del
XR_001753685.2:n.821_907del
XR_001753686.2:n.821_907del
NM_000527.5:c.704_790del MANE Select	NP_000518.1:p.Thr235_Asp263del
NM_001195798.2:c.704_790del	NP_001182727.1:p.Thr235_Asp263del
NM_001195799.2:c.581_667del	NP_001182728.1:p.Thr194_Asp222del
NM_001195800.2:c.314-818_314-732del	NP_001182729.1:n.314-818_314-732del
NM_001195803.2:c.323_409del	NP_001182732.1:p.Thr108_Asp136del