Canonical Allele Identifier: CA2573050614

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11118198_11122020del , CM000681.2:g.11118198_11122020del	GRCh38
NC_000019.9:g.11228874_11232696del , CM000681.1:g.11228874_11232696del	GRCh37
NC_000019.8:g.11089874_11093696del	NCBI36
NG_009060.1:g.33818_37640del , LRG_274:g.33818_37640del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2103+1200_2399-1154del
ENST00000559340.2:c.1706-1894_*210-1154del
ENST00000560467.2:c.1725+1200_2021-1154del
ENST00000558518.6:c.1845+1200_2141-1154del
ENST00000252444.9:c.2099+1200_2395-1154del
ENST00000455727.6:c.1341+1200_1637-1154del
ENST00000535915.5:c.1722+1200_2018-1154del
ENST00000545707.5:c.1464+1200_1607-1154del
ENST00000557933.5:c.1845+1200_2141-1154del
ENST00000558013.5:c.1845+1200_2141-1154del
ENST00000558518.5:c.1845+1200_2141-1154del
NM_000527.4:c.1845+1200_2141-1154del , LRG_274t1:c.1845+1200_2141-1154del
NM_001195798.1:c.1845+1200_2141-1154del
NM_001195799.1:c.1722+1200_2018-1154del
NM_001195800.1:c.1341+1200_1637-1154del
NM_001195803.1:c.1464+1200_1607-1154del
XM_011528010.1:c.1845+1200_2141-1154del
XM_011528011.1:c.1464+1200_1760-1154del
XR_244074.2:n.1856-1894_2151-1154del
XM_011528010.2:c.1845+1200_2141-1154del
XR_001753685.2:n.1962+1200_2475-1154del
XR_001753686.2:n.1823-1894_2118-1154del
NM_000527.5:c.1845+1200_2141-1154del
NM_001195798.2:c.1845+1200_2141-1154del
NM_001195799.2:c.1722+1200_2018-1154del
NM_001195800.2:c.1341+1200_1637-1154del
NM_001195803.2:c.1464+1200_1607-1154del