Canonical Allele Identifier: CA645509269

Gene: LDLR

Linked Data

• ClinVar Variation Id: 440726
• ClinVar RCV Id: RCV000508790
• MyVariant Identifiers: chr19:g.11217360_11218068del (hg19) ; chr19:g.11106684_11107392del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11106684_11107392del , CM000681.2:g.11106684_11107392del	GRCh38
NC_000019.9:g.11217360_11218068del , CM000681.1:g.11217360_11218068del	GRCh37
NC_000019.8:g.11078360_11079068del	NCBI36
NG_009060.1:g.22304_23012del , LRG_274:g.22304_23012del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1072_1076del
ENST00000559340.2:c.814_818del
ENST00000560467.2:c.814_818del
ENST00000558518.6:c.814_818del
ENST00000252444.9:c.1068_1072del
ENST00000455727.6:c.314-708_314del
ENST00000535915.5:c.691_695del
ENST00000545707.5:c.433_437del
ENST00000557933.5:c.814_818del
ENST00000558013.5:c.814_818del
ENST00000558518.5:c.814_818del
ENST00000558528.1:n.329_333del
ENST00000560467.1:c.414_418del
NM_000527.4:c.814_818del , LRG_274t1:c.814_818del
NM_001195798.1:c.814_818del
NM_001195799.1:c.691_695del
NM_001195800.1:c.314-708_314del
NM_001195803.1:c.433_437del
XM_011528010.1:c.814_818del
XM_011528011.1:c.433_437del
XR_244074.2:n.964_968del
XM_011528010.2:c.814_818del
XR_001753685.2:n.931_935del
XR_001753686.2:n.931_935del
NM_000527.5:c.814_818del
NM_001195798.2:c.814_818del
NM_001195799.2:c.691_695del
NM_001195800.2:c.314-708_314del
NM_001195803.2:c.433_437del