Canonical Allele Identifier: CA2322767612

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105576_11105581delinsGACAAA , CM000681.2:g.11105576_11105581delinsGACAAA	GRCh38
NC_000019.9:g.11216252_11216257delinsGACAAA , CM000681.1:g.11216252_11216257delinsGACAAA	GRCh37
NC_000019.8:g.11077252_11077257delinsGACAAA	NCBI36
NG_009060.1:g.21196_21201delinsGACAAA , LRG_274:g.21196_21201delinsGACAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.928_933delinsGACAAA	ENSP00000252444.6:p.Asp310=
ENST00000559340.2:c.670_675delinsGACAAA	ENSP00000453696.2:p.Asp224=
ENST00000560467.2:c.670_675delinsGACAAA	ENSP00000453513.2:p.Asp224=
ENST00000558518.6:c.670_675delinsGACAAA MANE Select	ENSP00000454071.1:p.Asp224=
ENST00000252444.9:c.924_929delinsGACAAA
ENST00000455727.6:c.314-1816_314-1811delinsGACAAA	ENSP00000397829.2:n.314-1816_314-1811delinsGACAAA
ENST00000535915.5:c.547_552delinsGACAAA	ENSP00000440520.1:p.Asp183=
ENST00000545707.5:c.314-989_314-984delinsGACAAA	ENSP00000437639.1:n.314-989_314-984delinsGACAAA
ENST00000557933.5:c.670_675delinsGACAAA	ENSP00000453557.1:p.Asp224=
ENST00000558013.5:c.670_675delinsGACAAA	ENSP00000453346.1:p.Asp224=
ENST00000558518.5:c.670_675delinsGACAAA	ENSP00000454071.1:p.Asp224=
ENST00000560467.1:c.270_275delinsGACAAA
NM_000527.4:c.670_675delinsGACAAA , LRG_274t1:c.670_675delinsGACAAA	NP_000518.1:p.Asp224=
NM_001195798.1:c.670_675delinsGACAAA	NP_001182727.1:p.Asp224=
NM_001195799.1:c.547_552delinsGACAAA	NP_001182728.1:p.Asp183=
NM_001195800.1:c.314-1816_314-1811delinsGACAAA	NP_001182729.1:n.314-1816_314-1811delinsGACAAA
NM_001195803.1:c.314-989_314-984delinsGACAAA	NP_001182732.1:n.314-989_314-984delinsGACAAA
XM_011528010.1:c.670_675delinsGACAAA	XP_011526312.1:p.Asp224=
XM_011528011.1:c.314-989_314-984delinsGACAAA	XP_011526313.1:n.314-989_314-984delinsGACAAA
XR_244074.2:n.820_825delinsGACAAA
XM_011528010.2:c.670_675delinsGACAAA	XP_011526312.1:p.Asp224=
XR_001753685.2:n.787_792delinsGACAAA
XR_001753686.2:n.787_792delinsGACAAA
NM_000527.5:c.670_675delinsGACAAA MANE Select	NP_000518.1:p.Asp224=
NM_001195798.2:c.670_675delinsGACAAA	NP_001182727.1:p.Asp224=
NM_001195799.2:c.547_552delinsGACAAA	NP_001182728.1:p.Asp183=
NM_001195800.2:c.314-1816_314-1811delinsGACAAA	NP_001182729.1:n.314-1816_314-1811delinsGACAAA
NM_001195803.2:c.314-989_314-984delinsGACAAA	NP_001182732.1:n.314-989_314-984delinsGACAAA