Canonical Allele Identifier: CA2322768502

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11107260_11107261delinsGC , CM000681.2:g.11107260_11107261delinsGC	GRCh38
NC_000019.9:g.11217936_11217937delinsGC , CM000681.1:g.11217936_11217937delinsGC	GRCh37
NC_000019.8:g.11078936_11078937delinsGC	NCBI36
NG_009060.1:g.22880_22881delinsGC , LRG_274:g.22880_22881delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1076-132_1076-131delinsGC	ENSP00000252444.6:n.1076-132_1076-131delinsGC
ENST00000559340.2:c.818-132_818-131delinsGC	ENSP00000453696.2:n.818-132_818-131delinsGC
ENST00000560467.2:c.818-132_818-131delinsGC	ENSP00000453513.2:n.818-132_818-131delinsGC
ENST00000558518.6:c.818-132_818-131delinsGC MANE Select	ENSP00000454071.1:n.818-132_818-131delinsGC
ENST00000252444.9:c.1072-132_1072-131delinsGC
ENST00000455727.6:c.314-132_314-131delinsGC	ENSP00000397829.2:n.314-132_314-131delinsGC
ENST00000535915.5:c.695-132_695-131delinsGC	ENSP00000440520.1:n.695-132_695-131delinsGC
ENST00000545707.5:c.437-132_437-131delinsGC	ENSP00000437639.1:n.437-132_437-131delinsGC
ENST00000557933.5:c.818-132_818-131delinsGC	ENSP00000453557.1:n.818-132_818-131delinsGC
ENST00000558013.5:c.818-132_818-131delinsGC	ENSP00000453346.1:n.818-132_818-131delinsGC
ENST00000558518.5:c.818-132_818-131delinsGC	ENSP00000454071.1:n.818-132_818-131delinsGC
ENST00000558528.1:n.333-132_333-131delinsGC
ENST00000560467.1:c.418-132_418-131delinsGC
NM_000527.4:c.818-132_818-131delinsGC , LRG_274t1:c.818-132_818-131delinsGC	NP_000518.1:n.818-132_818-131delinsGC
NM_001195798.1:c.818-132_818-131delinsGC	NP_001182727.1:n.818-132_818-131delinsGC
NM_001195799.1:c.695-132_695-131delinsGC	NP_001182728.1:n.695-132_695-131delinsGC
NM_001195800.1:c.314-132_314-131delinsGC	NP_001182729.1:n.314-132_314-131delinsGC
NM_001195803.1:c.437-132_437-131delinsGC	NP_001182732.1:n.437-132_437-131delinsGC
XM_011528010.1:c.818-132_818-131delinsGC	XP_011526312.1:n.818-132_818-131delinsGC
XM_011528011.1:c.437-132_437-131delinsGC	XP_011526313.1:n.437-132_437-131delinsGC
XR_244074.2:n.968-132_968-131delinsGC
XM_011528010.2:c.818-132_818-131delinsGC	XP_011526312.1:n.818-132_818-131delinsGC
XR_001753685.2:n.935-132_935-131delinsGC
XR_001753686.2:n.935-132_935-131delinsGC
NM_000527.5:c.818-132_818-131delinsGC MANE Select	NP_000518.1:n.818-132_818-131delinsGC
NM_001195798.2:c.818-132_818-131delinsGC	NP_001182727.1:n.818-132_818-131delinsGC
NM_001195799.2:c.695-132_695-131delinsGC	NP_001182728.1:n.695-132_695-131delinsGC
NM_001195800.2:c.314-132_314-131delinsGC	NP_001182729.1:n.314-132_314-131delinsGC
NM_001195803.2:c.437-132_437-131delinsGC	NP_001182732.1:n.437-132_437-131delinsGC