Canonical Allele Identifier: CA2573050589

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11107515del , CM000681.2:g.11107515del	GRCh38
NC_000019.9:g.11218191del , CM000681.1:g.11218191del	GRCh37
NC_000019.8:g.11079191del	NCBI36
NG_009060.1:g.23135del , LRG_274:g.23135del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1198+1del
ENST00000559340.2:c.940+1del
ENST00000560467.2:c.940+1del
ENST00000558518.6:c.940+1del
ENST00000252444.9:c.1194+1del
ENST00000455727.6:c.436+1del
ENST00000535915.5:c.817+1del
ENST00000545707.5:c.559+1del
ENST00000557933.5:c.940+1del
ENST00000558013.5:c.940+1del
ENST00000558518.5:c.940+1del
ENST00000558528.1:n.456del
ENST00000560467.1:c.540+1del
NM_000527.4:c.940+1del , LRG_274t1:c.940+1del
NM_001195798.1:c.940+1del
NM_001195799.1:c.817+1del
NM_001195800.1:c.436+1del
NM_001195803.1:c.559+1del
XM_011528010.1:c.940+1del
XM_011528011.1:c.559+1del
XR_244074.2:n.1090+1del
XM_011528010.2:c.940+1del
XR_001753685.2:n.1057+1del
XR_001753686.2:n.1057+1del
NM_000527.5:c.940+1del
NM_001195798.2:c.940+1del
NM_001195799.2:c.817+1del
NM_001195800.2:c.436+1del
NM_001195803.2:c.559+1del