Canonical Allele Identifier: CA10584859

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251159
• ClinVar RCV Id: RCV000238423
• dbSNP Id: rs879254479
• MyVariant Identifiers: chr19:g.11215917_11215926del (hg19) ; chr19:g.11105241_11105250del (hg38)
• PubMed: PMID:7586640

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105241_11105250del , CM000681.2:g.11105241_11105250del	GRCh38
NC_000019.9:g.11215917_11215926del , CM000681.1:g.11215917_11215926del	GRCh37
NC_000019.8:g.11076917_11076926del	NCBI36
NG_009060.1:g.20861_20870del , LRG_274:g.20861_20870del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.593_602del	ENSP00000252444.6:p.Asp198AlafsTer?
ENST00000559340.2:c.335_344del	ENSP00000453696.2:p.Asp112AlafsTer?
ENST00000560467.2:c.335_344del	ENSP00000453513.2:p.Asp112AlafsTer?
ENST00000558518.6:c.335_344del MANE Select	ENSP00000454071.1:p.Asp112AlafsTer?
ENST00000252444.9:c.589_598del
ENST00000455727.6:c.314-2151_314-2142del	ENSP00000397829.2:n.314-2151_314-2142del
ENST00000535915.5:c.212_221del	ENSP00000440520.1:p.Asp71AlafsTer?
ENST00000545707.5:c.314-1324_314-1315del	ENSP00000437639.1:n.314-1324_314-1315del
ENST00000557933.5:c.335_344del	ENSP00000453557.1:p.Asp112AlafsTer?
ENST00000558013.5:c.335_344del	ENSP00000453346.1:p.Asp112AlafsTer?
ENST00000558518.5:c.335_344del	ENSP00000454071.1:p.Asp112AlafsTer?
NM_000527.4:c.335_344del , LRG_274t1:c.335_344del	NP_000518.1:p.Asp112AlafsTer?
NM_001195798.1:c.335_344del	NP_001182727.1:p.Asp112AlafsTer?
NM_001195799.1:c.212_221del	NP_001182728.1:p.Asp71AlafsTer?
NM_001195800.1:c.314-2151_314-2142del	NP_001182729.1:n.314-2151_314-2142del
NM_001195803.1:c.314-1324_314-1315del	NP_001182732.1:n.314-1324_314-1315del
XM_011528010.1:c.335_344del	XP_011526312.1:p.Asp112AlafsTer?
XM_011528011.1:c.314-1324_314-1315del	XP_011526313.1:n.314-1324_314-1315del
XR_244074.2:n.485_494del
XM_011528010.2:c.335_344del	XP_011526312.1:p.Asp112AlafsTer?
XR_001753685.2:n.452_461del
XR_001753686.2:n.452_461del
NM_000527.5:c.335_344del MANE Select	NP_000518.1:p.Asp112AlafsTer?
NM_001195798.2:c.335_344del	NP_001182727.1:p.Asp112AlafsTer?
NM_001195799.2:c.212_221del	NP_001182728.1:p.Asp71AlafsTer?
NM_001195800.2:c.314-2151_314-2142del	NP_001182729.1:n.314-2151_314-2142del
NM_001195803.2:c.314-1324_314-1315del	NP_001182732.1:n.314-1324_314-1315del