Canonical Allele Identifier: CA2322760860

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11091636_11091644delinsGTTAAGGAA , CM000681.2:g.11091636_11091644delinsGTTAAGGAA	GRCh38
NC_000019.9:g.11202312_11202320delinsGTTAAGGAA , CM000681.1:g.11202312_11202320delinsGTTAAGGAA	GRCh37
NC_000019.8:g.11063312_11063320delinsGTTAAGGAA	NCBI36
NG_009060.1:g.7256_7264delinsGTTAAGGAA , LRG_274:g.7256_7264delinsGTTAAGGAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.325+717_325+725delinsGTTAAGGAA	ENSP00000252444.6:n.325+717_325+725delins...
ENST00000559340.2:c.67+2021_67+2029delinsGTTAAGGAA	ENSP00000453696.2:n.67+2021_67+2029delins...
ENST00000560467.2:c.67+2021_67+2029delinsGTTAAGGAA	ENSP00000453513.2:n.67+2021_67+2029delins...
ENST00000558518.6:c.67+2021_67+2029delinsGTTAAGGAA MANE Select	ENSP00000454071.1:n.67+2021_67+2029delins...
ENST00000252444.9:c.321+717_321+725delinsGTTAAGGAA
ENST00000455727.6:c.67+2021_67+2029delinsGTTAAGGAA	ENSP00000397829.2:n.67+2021_67+2029delins...
ENST00000535915.5:c.67+2021_67+2029delinsGTTAAGGAA	ENSP00000440520.1:n.67+2021_67+2029delins...
ENST00000545707.5:c.67+2021_67+2029delinsGTTAAGGAA	ENSP00000437639.1:n.67+2021_67+2029delins...
ENST00000557933.5:c.67+2021_67+2029delinsGTTAAGGAA	ENSP00000453557.1:n.67+2021_67+2029delins...
ENST00000557958.1:n.153+2021_153+2029delinsGTTAAGGAA
ENST00000558013.5:c.67+2021_67+2029delinsGTTAAGGAA	ENSP00000453346.1:n.67+2021_67+2029delins...
ENST00000558518.5:c.67+2021_67+2029delinsGTTAAGGAA	ENSP00000454071.1:n.67+2021_67+2029delins...
ENST00000560502.5:n.153+2021_153+2029delinsGTTAAGGAA
NM_000527.4:c.67+2021_67+2029delinsGTTAAGGAA , LRG_274t1:c.67+2021_67+2029delinsGTTAAGGAA	NP_000518.1:n.67+2021_67+2029delinsGTTAAG...
NM_001195798.1:c.67+2021_67+2029delinsGTTAAGGAA	NP_001182727.1:n.67+2021_67+2029delinsGTT...
NM_001195799.1:c.67+2021_67+2029delinsGTTAAGGAA	NP_001182728.1:n.67+2021_67+2029delinsGTT...
NM_001195800.1:c.67+2021_67+2029delinsGTTAAGGAA	NP_001182729.1:n.67+2021_67+2029delinsGTT...
NM_001195803.1:c.67+2021_67+2029delinsGTTAAGGAA	NP_001182732.1:n.67+2021_67+2029delinsGTT...
XM_011528010.1:c.67+2021_67+2029delinsGTTAAGGAA	XP_011526312.1:n.67+2021_67+2029delinsGTT...
XM_011528011.1:c.67+2021_67+2029delinsGTTAAGGAA	XP_011526313.1:n.67+2021_67+2029delinsGTT...
XR_244074.2:n.217+2021_217+2029delinsGTTAAGGAA
XM_011528010.2:c.67+2021_67+2029delinsGTTAAGGAA	XP_011526312.1:n.67+2021_67+2029delinsGTT...
XR_001753685.2:n.184+2021_184+2029delinsGTTAAGGAA
XR_001753686.2:n.184+2021_184+2029delinsGTTAAGGAA
NM_000527.5:c.67+2021_67+2029delinsGTTAAGGAA MANE Select	NP_000518.1:n.67+2021_67+2029delinsGTTAAG...
NM_001195798.2:c.67+2021_67+2029delinsGTTAAGGAA	NP_001182727.1:n.67+2021_67+2029delinsGTT...
NM_001195799.2:c.67+2021_67+2029delinsGTTAAGGAA	NP_001182728.1:n.67+2021_67+2029delinsGTT...
NM_001195800.2:c.67+2021_67+2029delinsGTTAAGGAA	NP_001182729.1:n.67+2021_67+2029delinsGTT...
NM_001195803.2:c.67+2021_67+2029delinsGTTAAGGAA	NP_001182732.1:n.67+2021_67+2029delinsGTT...