Canonical Allele Identifier: CA2322766002

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11102703_11102704delinsGC , CM000681.2:g.11102703_11102704delinsGC	GRCh38
NC_000019.9:g.11213379_11213380delinsGC , CM000681.1:g.11213379_11213380delinsGC	GRCh37
NC_000019.8:g.11074379_11074380delinsGC	NCBI36
NG_009060.1:g.18323_18324delinsGC , LRG_274:g.18323_18324delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.488_489delinsGC	ENSP00000252444.6:p.Gly163=
ENST00000559340.2:c.230_231delinsGC	ENSP00000453696.2:p.Gly77=
ENST00000560467.2:c.230_231delinsGC	ENSP00000453513.2:p.Gly77=
ENST00000558518.6:c.230_231delinsGC MANE Select	ENSP00000454071.1:p.Gly77=
ENST00000252444.9:c.484_485delinsGC
ENST00000455727.6:c.230_231delinsGC	ENSP00000397829.2:p.Gly77=
ENST00000535915.5:c.190+2358_190+2359delinsGC	ENSP00000440520.1:n.190+2358_190+2359delinsGC
ENST00000545707.5:c.230_231delinsGC	ENSP00000437639.1:p.Gly77=
ENST00000557933.5:c.230_231delinsGC	ENSP00000453557.1:p.Gly77=
ENST00000557958.1:n.316_317delinsGC
ENST00000558013.5:c.230_231delinsGC	ENSP00000453346.1:p.Gly77=
ENST00000558518.5:c.230_231delinsGC	ENSP00000454071.1:p.Gly77=
NM_000527.4:c.230_231delinsGC , LRG_274t1:c.230_231delinsGC	NP_000518.1:p.Gly77=
NM_001195798.1:c.230_231delinsGC	NP_001182727.1:p.Gly77=
NM_001195799.1:c.190+2358_190+2359delinsGC	NP_001182728.1:n.190+2358_190+2359delinsGC
NM_001195800.1:c.230_231delinsGC	NP_001182729.1:p.Gly77=
NM_001195803.1:c.230_231delinsGC	NP_001182732.1:p.Gly77=
XM_011528010.1:c.230_231delinsGC	XP_011526312.1:p.Gly77=
XM_011528011.1:c.230_231delinsGC	XP_011526313.1:p.Gly77=
XR_244074.2:n.380_381delinsGC
XM_011528010.2:c.230_231delinsGC	XP_011526312.1:p.Gly77=
XR_001753685.2:n.347_348delinsGC
XR_001753686.2:n.347_348delinsGC
NM_000527.5:c.230_231delinsGC MANE Select	NP_000518.1:p.Gly77=
NM_001195798.2:c.230_231delinsGC	NP_001182727.1:p.Gly77=
NM_001195799.2:c.190+2358_190+2359delinsGC	NP_001182728.1:n.190+2358_190+2359delinsGC
NM_001195800.2:c.230_231delinsGC	NP_001182729.1:p.Gly77=
NM_001195803.2:c.230_231delinsGC	NP_001182732.1:p.Gly77=