Canonical Allele Identifier: CA2322760887

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11091688_11091689delinsTC , CM000681.2:g.11091688_11091689delinsTC	GRCh38
NC_000019.9:g.11202364_11202365delinsTC , CM000681.1:g.11202364_11202365delinsTC	GRCh37
NC_000019.8:g.11063364_11063365delinsTC	NCBI36
NG_009060.1:g.7308_7309delinsTC , LRG_274:g.7308_7309delinsTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.325+769_325+770delinsTC	ENSP00000252444.6:n.325+769_325+770delins...
ENST00000559340.2:c.67+2073_67+2074delinsTC	ENSP00000453696.2:n.67+2073_67+2074delins...
ENST00000560467.2:c.67+2073_67+2074delinsTC	ENSP00000453513.2:n.67+2073_67+2074delins...
ENST00000558518.6:c.67+2073_67+2074delinsTC MANE Select	ENSP00000454071.1:n.67+2073_67+2074delins...
ENST00000252444.9:c.321+769_321+770delinsTC
ENST00000455727.6:c.67+2073_67+2074delinsTC	ENSP00000397829.2:n.67+2073_67+2074delins...
ENST00000535915.5:c.67+2073_67+2074delinsTC	ENSP00000440520.1:n.67+2073_67+2074delins...
ENST00000545707.5:c.67+2073_67+2074delinsTC	ENSP00000437639.1:n.67+2073_67+2074delins...
ENST00000557933.5:c.67+2073_67+2074delinsTC	ENSP00000453557.1:n.67+2073_67+2074delins...
ENST00000557958.1:n.153+2073_153+2074delinsTC
ENST00000558013.5:c.67+2073_67+2074delinsTC	ENSP00000453346.1:n.67+2073_67+2074delins...
ENST00000558518.5:c.67+2073_67+2074delinsTC	ENSP00000454071.1:n.67+2073_67+2074delins...
ENST00000560502.5:n.153+2073_153+2074delinsTC
NM_000527.4:c.67+2073_67+2074delinsTC , LRG_274t1:c.67+2073_67+2074delinsTC	NP_000518.1:n.67+2073_67+2074delinsTC
NM_001195798.1:c.67+2073_67+2074delinsTC	NP_001182727.1:n.67+2073_67+2074delinsTC
NM_001195799.1:c.67+2073_67+2074delinsTC	NP_001182728.1:n.67+2073_67+2074delinsTC
NM_001195800.1:c.67+2073_67+2074delinsTC	NP_001182729.1:n.67+2073_67+2074delinsTC
NM_001195803.1:c.67+2073_67+2074delinsTC	NP_001182732.1:n.67+2073_67+2074delinsTC
XM_011528010.1:c.67+2073_67+2074delinsTC	XP_011526312.1:n.67+2073_67+2074delinsTC
XM_011528011.1:c.67+2073_67+2074delinsTC	XP_011526313.1:n.67+2073_67+2074delinsTC
XR_244074.2:n.217+2073_217+2074delinsTC
XM_011528010.2:c.67+2073_67+2074delinsTC	XP_011526312.1:n.67+2073_67+2074delinsTC
XR_001753685.2:n.184+2073_184+2074delinsTC
XR_001753686.2:n.184+2073_184+2074delinsTC
NM_000527.5:c.67+2073_67+2074delinsTC MANE Select	NP_000518.1:n.67+2073_67+2074delinsTC
NM_001195798.2:c.67+2073_67+2074delinsTC	NP_001182727.1:n.67+2073_67+2074delinsTC
NM_001195799.2:c.67+2073_67+2074delinsTC	NP_001182728.1:n.67+2073_67+2074delinsTC
NM_001195800.2:c.67+2073_67+2074delinsTC	NP_001182729.1:n.67+2073_67+2074delinsTC
NM_001195803.2:c.67+2073_67+2074delinsTC	NP_001182732.1:n.67+2073_67+2074delinsTC