Canonical Allele Identifier: CA2573050561

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11102141_11108134del , CM000681.2:g.11102141_11108134del	GRCh38
NC_000019.9:g.11212817_11218810del , CM000681.1:g.11212817_11218810del	GRCh37
NC_000019.8:g.11073817_11079810del	NCBI36
NG_009060.1:g.17761_23754del , LRG_274:g.17761_23754del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.449-523_1198+620del
ENST00000559340.2:c.191-523_940+620del
ENST00000560467.2:c.191-523_940+620del
ENST00000558518.6:c.191-523_940+620del
ENST00000252444.9:c.445-523_1194+620del
ENST00000455727.6:c.191-523_436+620del
ENST00000535915.5:c.190+1796_817+620del
ENST00000545707.5:c.191-523_559+620del
ENST00000557933.5:c.191-523_940+620del
ENST00000558013.5:c.191-523_940+620del
ENST00000558518.5:c.191-523_940+620del
NM_000527.4:c.191-523_940+620del , LRG_274t1:c.191-523_940+620del
NM_001195798.1:c.191-523_940+620del
NM_001195799.1:c.190+1796_817+620del
NM_001195800.1:c.191-523_436+620del
NM_001195803.1:c.191-523_559+620del
XM_011528010.1:c.191-523_940+620del
XM_011528011.1:c.191-523_559+620del
XR_244074.2:n.341-523_1090+620del
XM_011528010.2:c.191-523_940+620del
XR_001753685.2:n.308-523_1057+620del
XR_001753686.2:n.308-523_1057+620del
NM_000527.5:c.191-523_940+620del
NM_001195798.2:c.191-523_940+620del
NM_001195799.2:c.190+1796_817+620del
NM_001195800.2:c.191-523_436+620del
NM_001195803.2:c.191-523_559+620del