Canonical Allele Identifier: CA2499225317

Gene: LDLR

Linked Data

• ClinVar Variation Id: 1068547
• ClinVar RCV Id: RCV001380149
• dbSNP Id: rs2147246807

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113277_11113278delinsTA , CM000681.2:g.11113277_11113278delinsTA	GRCh38
NC_000019.9:g.11223953_11223954delinsTA , CM000681.1:g.11223953_11223954delinsTA	GRCh37
NC_000019.8:g.11084953_11084954delinsTA	NCBI36
NG_009060.1:g.28897_28898delinsTA , LRG_274:g.28897_28898delinsTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1445-1_1445delinsTA
ENST00000559340.2:c.1187-1_1187delinsTA
ENST00000560467.2:c.1067-1_1067delinsTA
ENST00000558518.6:c.1187-1_1187delinsTA
ENST00000252444.9:c.1441-1_1441delinsTA
ENST00000455727.6:c.683-1_683delinsTA
ENST00000535915.5:c.1064-1_1064delinsTA
ENST00000545707.5:c.806-1_806delinsTA
ENST00000557933.5:c.1187-1_1187delinsTA
ENST00000558013.5:c.1187-1_1187delinsTA
ENST00000558518.5:c.1187-1_1187delinsTA
ENST00000560173.1:n.186-1_186delinsTA
ENST00000560467.1:c.667-1_667delinsTA
NM_000527.4:c.1187-1_1187delinsTA , LRG_274t1:c.1187-1_1187delinsTA
NM_001195798.1:c.1187-1_1187delinsTA
NM_001195799.1:c.1064-1_1064delinsTA
NM_001195800.1:c.683-1_683delinsTA
NM_001195803.1:c.806-1_806delinsTA
XM_011528010.1:c.1187-1_1187delinsTA
XM_011528011.1:c.806-1_806delinsTA
XR_244074.2:n.1337-1_1337delinsTA
XM_011528010.2:c.1187-1_1187delinsTA
XR_001753685.2:n.1304-1_1304delinsTA
XR_001753686.2:n.1304-1_1304delinsTA
NM_000527.5:c.1187-1_1187delinsTA
NM_001195798.2:c.1187-1_1187delinsTA
NM_001195799.2:c.1064-1_1064delinsTA
NM_001195800.2:c.683-1_683delinsTA
NM_001195803.2:c.806-1_806delinsTA