Canonical Allele Identifier: CA2695202624

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120520_11120523del , CM000681.2:g.11120520_11120523del	GRCh38
NC_000019.9:g.11231196_11231199del , CM000681.1:g.11231196_11231199del	GRCh37
NC_000019.8:g.11092196_11092199del	NCBI36
NG_009060.1:g.36140_36143del , LRG_274:g.36140_36143del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2396_2398+1del
ENST00000559340.2:c.*207_*209+1del
ENST00000560467.2:c.2018_2020+1del
ENST00000558518.6:c.2138_2140+1del
ENST00000252444.9:c.2392_2394+1del
ENST00000455727.6:c.1634_1636+1del
ENST00000535915.5:c.2015_2017+1del
ENST00000545707.5:c.1606+287_1606+290del	ENSP00000437639.1:n.1606+287_1606+290del
ENST00000557933.5:c.2138_2140+1del
ENST00000558013.5:c.2138_2140+1del
ENST00000558518.5:c.2138_2140+1del
NM_000527.4:c.2138_2140+1del , LRG_274t1:c.2138_2140+1del
NM_001195798.1:c.2138_2140+1del
NM_001195799.1:c.2015_2017+1del
NM_001195800.1:c.1634_1636+1del
NM_001195803.1:c.1606+287_1606+290del	NP_001182732.1:n.1606+287_1606+290del
XM_011528010.1:c.2138_2140+1del
XM_011528011.1:c.1757_1759+1del
XR_244074.2:n.2148_2150+1del
XM_011528010.2:c.2138_2140+1del
XR_001753685.2:n.2255_2258del
XR_001753686.2:n.2115_2117+1del
NM_000527.5:c.2138_2140+1del
NM_001195798.2:c.2138_2140+1del
NM_001195799.2:c.2015_2017+1del
NM_001195800.2:c.1634_1636+1del
NM_001195803.2:c.1606+287_1606+290del	NP_001182732.1:n.1606+287_1606+290del