Canonical Allele Identifier: CA10584784

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251055
• ClinVar RCV Id: RCV000238032
• MyVariant Identifiers: chr19:g.11212828_11218821del (hg19) ; chr19:g.11102152_11108145del (hg38)
• PubMed: PMID:17399720

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11102152_11108145del , CM000681.2:g.11102152_11108145del	GRCh38
NC_000019.9:g.11212828_11218821del , CM000681.1:g.11212828_11218821del	GRCh37
NC_000019.8:g.11073828_11079821del	NCBI36
NG_009060.1:g.17772_23765del , LRG_274:g.17772_23765del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.449-512_1198+631del
ENST00000559340.2:c.191-512_940+631del
ENST00000560467.2:c.191-512_940+631del
ENST00000558518.6:c.191-512_940+631del
ENST00000252444.9:c.445-512_1194+631del
ENST00000455727.6:c.191-512_436+631del
ENST00000535915.5:c.190+1807_817+631del
ENST00000545707.5:c.191-512_559+631del
ENST00000557933.5:c.191-512_940+631del
ENST00000558013.5:c.191-512_940+631del
ENST00000558518.5:c.191-512_940+631del
NM_000527.4:c.191-512_940+631del , LRG_274t1:c.191-512_940+631del
NM_001195798.1:c.191-512_940+631del
NM_001195799.1:c.190+1807_817+631del
NM_001195800.1:c.191-512_436+631del
NM_001195803.1:c.191-512_559+631del
XM_011528010.1:c.191-512_940+631del
XM_011528011.1:c.191-512_559+631del
XR_244074.2:n.341-512_1090+631del
XM_011528010.2:c.191-512_940+631del
XR_001753685.2:n.308-512_1057+631del
XR_001753686.2:n.308-512_1057+631del
NM_000527.5:c.191-512_940+631del
NM_001195798.2:c.191-512_940+631del
NM_001195799.2:c.190+1807_817+631del
NM_001195800.2:c.191-512_436+631del
NM_001195803.2:c.191-512_559+631del