Canonical Allele Identifier: CA2322768134

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11106546_11106548delinsACT , CM000681.2:g.11106546_11106548delinsACT	GRCh38
NC_000019.9:g.11217222_11217224delinsACT , CM000681.1:g.11217222_11217224delinsACT	GRCh37
NC_000019.8:g.11078222_11078224delinsACT	NCBI36
NG_009060.1:g.22166_22168delinsACT , LRG_274:g.22166_22168delinsACT

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.953-19_953-17delinsACT	ENSP00000252444.6:n.953-19_953-17delinsAC...
ENST00000559340.2:c.695-19_695-17delinsACT	ENSP00000453696.2:n.695-19_695-17delinsAC...
ENST00000560467.2:c.695-19_695-17delinsACT	ENSP00000453513.2:n.695-19_695-17delinsAC...
ENST00000558518.6:c.695-19_695-17delinsACT MANE Select	ENSP00000454071.1:n.695-19_695-17delinsAC...
ENST00000252444.9:c.949-19_949-17delinsACT
ENST00000455727.6:c.314-846_314-844delinsACT	ENSP00000397829.2:n.314-846_314-844delins...
ENST00000535915.5:c.572-19_572-17delinsACT	ENSP00000440520.1:n.572-19_572-17delinsAC...
ENST00000545707.5:c.314-19_314-17delinsACT	ENSP00000437639.1:n.314-19_314-17delinsAC...
ENST00000557933.5:c.695-19_695-17delinsACT	ENSP00000453557.1:n.695-19_695-17delinsAC...
ENST00000558013.5:c.695-19_695-17delinsACT	ENSP00000453346.1:n.695-19_695-17delinsAC...
ENST00000558518.5:c.695-19_695-17delinsACT	ENSP00000454071.1:n.695-19_695-17delinsAC...
ENST00000558528.1:n.191_193delinsACT
ENST00000560467.1:c.295-19_295-17delinsACT
NM_000527.4:c.695-19_695-17delinsACT , LRG_274t1:c.695-19_695-17delinsACT	NP_000518.1:n.695-19_695-17delinsACT
NM_001195798.1:c.695-19_695-17delinsACT	NP_001182727.1:n.695-19_695-17delinsACT
NM_001195799.1:c.572-19_572-17delinsACT	NP_001182728.1:n.572-19_572-17delinsACT
NM_001195800.1:c.314-846_314-844delinsACT	NP_001182729.1:n.314-846_314-844delinsACT...
NM_001195803.1:c.314-19_314-17delinsACT	NP_001182732.1:n.314-19_314-17delinsACT
XM_011528010.1:c.695-19_695-17delinsACT	XP_011526312.1:n.695-19_695-17delinsACT
XM_011528011.1:c.314-19_314-17delinsACT	XP_011526313.1:n.314-19_314-17delinsACT
XR_244074.2:n.845-19_845-17delinsACT
XM_011528010.2:c.695-19_695-17delinsACT	XP_011526312.1:n.695-19_695-17delinsACT
XR_001753685.2:n.812-19_812-17delinsACT
XR_001753686.2:n.812-19_812-17delinsACT
NM_000527.5:c.695-19_695-17delinsACT MANE Select	NP_000518.1:n.695-19_695-17delinsACT
NM_001195798.2:c.695-19_695-17delinsACT	NP_001182727.1:n.695-19_695-17delinsACT
NM_001195799.2:c.572-19_572-17delinsACT	NP_001182728.1:n.572-19_572-17delinsACT
NM_001195800.2:c.314-846_314-844delinsACT	NP_001182729.1:n.314-846_314-844delinsACT...
NM_001195803.2:c.314-19_314-17delinsACT	NP_001182732.1:n.314-19_314-17delinsACT