Canonical Allele Identifier: CA2322775664

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120521_11120533delinsAGGTGTGGCACAC , CM000681.2:g.11120521_11120533delinsAGGTGTGGCACAC	GRCh38
NC_000019.9:g.11231197_11231209delinsAGGTGTGGCACAC , CM000681.1:g.11231197_11231209delinsAGGTGTGGCACAC	GRCh37
NC_000019.8:g.11092197_11092209delinsAGGTGTGGCACAC	NCBI36
NG_009060.1:g.36141_36153delinsAGGTGTGGCACAC , LRG_274:g.36141_36153delinsAGGTGTGGCACAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2397_2398+11delinsAGGTGTGGCACAC
ENST00000559340.2:c.*208_*209+11delinsAGGTGTGGCACAC
ENST00000560467.2:c.2019_2020+11delinsAGGTGTGGCACAC
ENST00000558518.6:c.2139_2140+11delinsAGGTGTGGCACAC
ENST00000252444.9:c.2393_2394+11delinsAGGTGTGGCACAC
ENST00000455727.6:c.1635_1636+11delinsAGGTGTGGCACAC
ENST00000535915.5:c.2016_2017+11delinsAGGTGTGGCACAC
ENST00000545707.5:c.1606+288_1606+300delinsAGGTGTGGCACAC	ENSP00000437639.1:n.1606+288_1606+300deli...
ENST00000557933.5:c.2139_2140+11delinsAGGTGTGGCACAC
ENST00000558013.5:c.2139_2140+11delinsAGGTGTGGCACAC
ENST00000558518.5:c.2139_2140+11delinsAGGTGTGGCACAC
NM_000527.4:c.2139_2140+11delinsAGGTGTGGCACAC , LRG_274t1:c.2139_2140+11delinsAGGTGTGGCACAC
NM_001195798.1:c.2139_2140+11delinsAGGTGTGGCACAC
NM_001195799.1:c.2016_2017+11delinsAGGTGTGGCACAC
NM_001195800.1:c.1635_1636+11delinsAGGTGTGGCACAC
NM_001195803.1:c.1606+288_1606+300delinsAGGTGTGGCACAC	NP_001182732.1:n.1606+288_1606+300delinsA...
XM_011528010.1:c.2139_2140+11delinsAGGTGTGGCACAC
XM_011528011.1:c.1758_1759+11delinsAGGTGTGGCACAC
XR_244074.2:n.2149_2150+11delinsAGGTGTGGCACAC
XM_011528010.2:c.2139_2140+11delinsAGGTGTGGCACAC
XR_001753685.2:n.2256_2268delinsAGGTGTGGCACAC
XR_001753686.2:n.2116_2117+11delinsAGGTGTGGCACAC
NM_000527.5:c.2139_2140+11delinsAGGTGTGGCACAC
NM_001195798.2:c.2139_2140+11delinsAGGTGTGGCACAC
NM_001195799.2:c.2016_2017+11delinsAGGTGTGGCACAC
NM_001195800.2:c.1635_1636+11delinsAGGTGTGGCACAC
NM_001195803.2:c.1606+288_1606+300delinsAGGTGTGGCACAC	NP_001182732.1:n.1606+288_1606+300delinsA...