Canonical Allele Identifier: CA10585334

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251695
• ClinVar RCV Id: RCV000237967
• dbSNP Id: rs879254812
• MyVariant Identifiers: chr19:g.11222302del (hg19) ; chr19:g.11111626del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11111626del , CM000681.2:g.11111626del	GRCh38
NC_000019.9:g.11222302del , CM000681.1:g.11222302del	GRCh37
NC_000019.8:g.11083302del	NCBI36
NG_009060.1:g.27246del , LRG_274:g.27246del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1431del	ENSP00000252444.6:p.Cys478AlafsTer21
ENST00000559340.2:c.1173del	ENSP00000453696.2:p.Cys392AlafsTer21
ENST00000560467.2:c.1053del	ENSP00000453513.2:p.Cys352AlafsTer21
ENST00000558518.6:c.1173del MANE Select	ENSP00000454071.1:p.Cys392AlafsTer21
ENST00000252444.9:c.1427del
ENST00000455727.6:c.669del	ENSP00000397829.2:p.Cys224AlafsTer21
ENST00000535915.5:c.1050del	ENSP00000440520.1:p.Cys351AlafsTer21
ENST00000545707.5:c.792del	ENSP00000437639.1:p.Cys265AlafsTer21
ENST00000557933.5:c.1173del	ENSP00000453557.1:p.Cys392AlafsTer21
ENST00000558013.5:c.1173del	ENSP00000453346.1:p.Cys392AlafsTer21
ENST00000558518.5:c.1173del	ENSP00000454071.1:p.Cys392AlafsTer21
ENST00000560173.1:n.172del
ENST00000560467.1:c.653del
NM_000527.4:c.1173del , LRG_274t1:c.1173del	NP_000518.1:p.Cys392AlafsTer21
NM_001195798.1:c.1173del	NP_001182727.1:p.Cys392AlafsTer21
NM_001195799.1:c.1050del	NP_001182728.1:p.Cys351AlafsTer21
NM_001195800.1:c.669del	NP_001182729.1:p.Cys224AlafsTer21
NM_001195803.1:c.792del	NP_001182732.1:p.Cys265AlafsTer21
XM_011528010.1:c.1173del	XP_011526312.1:p.Cys392AlafsTer21
XM_011528011.1:c.792del	XP_011526313.1:p.Cys265AlafsTer21
XR_244074.2:n.1323del
XM_011528010.2:c.1173del	XP_011526312.1:p.Cys392AlafsTer21
XR_001753685.2:n.1290del
XR_001753686.2:n.1290del
NM_000527.5:c.1173del MANE Select	NP_000518.1:p.Cys392AlafsTer21
NM_001195798.2:c.1173del	NP_001182727.1:p.Cys392AlafsTer21
NM_001195799.2:c.1050del	NP_001182728.1:p.Cys351AlafsTer21
NM_001195800.2:c.669del	NP_001182729.1:p.Cys224AlafsTer21
NM_001195803.2:c.792del	NP_001182732.1:p.Cys265AlafsTer21