Canonical Allele Identifier: CA2322767315

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105270_11105272delinsATC , CM000681.2:g.11105270_11105272delinsATC	GRCh38
NC_000019.9:g.11215946_11215948delinsATC , CM000681.1:g.11215946_11215948delinsATC	GRCh37
NC_000019.8:g.11076946_11076948delinsATC	NCBI36
NG_009060.1:g.20890_20892delinsATC , LRG_274:g.20890_20892delinsATC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.622_624delinsATC	ENSP00000252444.6:p.Ile208=
ENST00000559340.2:c.364_366delinsATC	ENSP00000453696.2:p.Ile122=
ENST00000560467.2:c.364_366delinsATC	ENSP00000453513.2:p.Ile122=
ENST00000558518.6:c.364_366delinsATC MANE Select	ENSP00000454071.1:p.Ile122=
ENST00000252444.9:c.618_620delinsATC
ENST00000455727.6:c.314-2122_314-2120delinsATC	ENSP00000397829.2:n.314-2122_314-2120delinsATC
ENST00000535915.5:c.241_243delinsATC	ENSP00000440520.1:p.Ile81=
ENST00000545707.5:c.314-1295_314-1293delinsATC	ENSP00000437639.1:n.314-1295_314-1293delinsATC
ENST00000557933.5:c.364_366delinsATC	ENSP00000453557.1:p.Ile122=
ENST00000558013.5:c.364_366delinsATC	ENSP00000453346.1:p.Ile122=
ENST00000558518.5:c.364_366delinsATC	ENSP00000454071.1:p.Ile122=
NM_000527.4:c.364_366delinsATC , LRG_274t1:c.364_366delinsATC	NP_000518.1:p.Ile122=
NM_001195798.1:c.364_366delinsATC	NP_001182727.1:p.Ile122=
NM_001195799.1:c.241_243delinsATC	NP_001182728.1:p.Ile81=
NM_001195800.1:c.314-2122_314-2120delinsATC	NP_001182729.1:n.314-2122_314-2120delinsATC
NM_001195803.1:c.314-1295_314-1293delinsATC	NP_001182732.1:n.314-1295_314-1293delinsATC
XM_011528010.1:c.364_366delinsATC	XP_011526312.1:p.Ile122=
XM_011528011.1:c.314-1295_314-1293delinsATC	XP_011526313.1:n.314-1295_314-1293delinsATC
XR_244074.2:n.514_516delinsATC
XM_011528010.2:c.364_366delinsATC	XP_011526312.1:p.Ile122=
XR_001753685.2:n.481_483delinsATC
XR_001753686.2:n.481_483delinsATC
NM_000527.5:c.364_366delinsATC MANE Select	NP_000518.1:p.Ile122=
NM_001195798.2:c.364_366delinsATC	NP_001182727.1:p.Ile122=
NM_001195799.2:c.241_243delinsATC	NP_001182728.1:p.Ile81=
NM_001195800.2:c.314-2122_314-2120delinsATC	NP_001182729.1:n.314-2122_314-2120delinsATC
NM_001195803.2:c.314-1295_314-1293delinsATC	NP_001182732.1:n.314-1295_314-1293delinsATC