Canonical Allele Identifier: CA2695228140

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11116857_11116861del , CM000681.2:g.11116857_11116861del	GRCh38
NC_000019.9:g.11227533_11227537del , CM000681.1:g.11227533_11227537del	GRCh37
NC_000019.8:g.11088533_11088537del	NCBI36
NG_009060.1:g.32477_32481del , LRG_274:g.32477_32481del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1964-2_1966del
ENST00000559340.2:c.1705+645_1705+649del	ENSP00000453696.2:n.1705+645_1705+649del
ENST00000560467.2:c.1586-2_1588del
ENST00000558518.6:c.1706-2_1708del
ENST00000252444.9:c.1960-2_1962del
ENST00000455727.6:c.1202-2_1204del
ENST00000535915.5:c.1583-2_1585del
ENST00000545707.5:c.1325-2_1327del
ENST00000557933.5:c.1706-2_1708del
ENST00000558013.5:c.1706-2_1708del
ENST00000558518.5:c.1706-2_1708del
ENST00000559340.1:c.426+645_426+649del
NM_000527.4:c.1706-2_1708del , LRG_274t1:c.1706-2_1708del
NM_001195798.1:c.1706-2_1708del
NM_001195799.1:c.1583-2_1585del
NM_001195800.1:c.1202-2_1204del
NM_001195803.1:c.1325-2_1327del
XM_011528010.1:c.1706-2_1708del
XM_011528011.1:c.1325-2_1327del
XR_244074.2:n.1855+645_1855+649del
XM_011528010.2:c.1706-2_1708del
XR_001753685.2:n.1823-2_1825del
XR_001753686.2:n.1822+645_1822+649del
NM_000527.5:c.1706-2_1708del
NM_001195798.2:c.1706-2_1708del
NM_001195799.2:c.1583-2_1585del
NM_001195800.2:c.1202-2_1204del
NM_001195803.2:c.1325-2_1327del