Canonical Allele Identifier: CA913189004

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120370_11121586del , CM000681.2:g.11120370_11121586del	GRCh38
NC_000019.9:g.11231046_11232262del , CM000681.1:g.11231046_11232262del	GRCh37
NC_000019.8:g.11092046_11093262del	NCBI36
NG_009060.1:g.35990_37206del , LRG_274:g.35990_37206del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2246_2398+1064del
ENST00000559340.2:c.*57_*209+1064del
ENST00000560467.2:c.1868_2020+1064del
ENST00000558518.6:c.1988_2140+1064del
ENST00000252444.9:c.2242_2394+1064del
ENST00000455727.6:c.1484_1636+1064del
ENST00000535915.5:c.1865_2017+1064del
ENST00000545707.5:c.1606+137_1606+1353del	ENSP00000437639.1:n.1606+137_1606+1353del...
ENST00000557933.5:c.1988_2140+1064del
ENST00000558013.5:c.1988_2140+1064del
ENST00000558518.5:c.1988_2140+1064del
NM_000527.4:c.1988_2140+1064del , LRG_274t1:c.1988_2140+1064del
NM_001195798.1:c.1988_2140+1064del
NM_001195799.1:c.1865_2017+1064del
NM_001195800.1:c.1484_1636+1064del
NM_001195803.1:c.1606+137_1606+1353del	NP_001182732.1:n.1606+137_1606+1353del
XM_011528010.1:c.1988_2140+1064del
XM_011528011.1:c.1607_1759+1064del
XR_244074.2:n.1998_2150+1064del
XM_011528010.2:c.1988_2140+1064del
XR_001753685.2:n.2105_2474+847del
XR_001753686.2:n.1965_2117+1064del
NM_000527.5:c.1988_2140+1064del
NM_001195798.2:c.1988_2140+1064del
NM_001195799.2:c.1865_2017+1064del
NM_001195800.2:c.1484_1636+1064del
NM_001195803.2:c.1606+137_1606+1353del	NP_001182732.1:n.1606+137_1606+1353del