Canonical Allele Identifier: CA2573050562

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11102477_11108484del , CM000681.2:g.11102477_11108484del	GRCh38
NC_000019.9:g.11213153_11219160del , CM000681.1:g.11213153_11219160del	GRCh37
NC_000019.8:g.11074153_11080160del	NCBI36
NG_009060.1:g.18097_24104del , LRG_274:g.18097_24104del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.449-187_1198+970del
ENST00000559340.2:c.191-187_940+970del
ENST00000560467.2:c.191-187_940+970del
ENST00000558518.6:c.191-187_940+970del
ENST00000252444.9:c.445-187_1194+970del
ENST00000455727.6:c.191-187_436+970del
ENST00000535915.5:c.190+2132_817+970del
ENST00000545707.5:c.191-187_559+970del
ENST00000557933.5:c.191-187_940+970del
ENST00000558013.5:c.191-187_940+970del
ENST00000558518.5:c.191-187_940+970del
NM_000527.4:c.191-187_940+970del , LRG_274t1:c.191-187_940+970del
NM_001195798.1:c.191-187_940+970del
NM_001195799.1:c.190+2132_817+970del
NM_001195800.1:c.191-187_436+970del
NM_001195803.1:c.191-187_559+970del
XM_011528010.1:c.191-187_940+970del
XM_011528011.1:c.191-187_559+970del
XR_244074.2:n.341-187_1090+970del
XM_011528010.2:c.191-187_940+970del
XR_001753685.2:n.308-187_1057+970del
XR_001753686.2:n.308-187_1057+970del
NM_000527.5:c.191-187_940+970del
NM_001195798.2:c.191-187_940+970del
NM_001195799.2:c.190+2132_817+970del
NM_001195800.2:c.191-187_436+970del
NM_001195803.2:c.191-187_559+970del