Canonical Allele Identifier: CA2322767610

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105575_11105581delinsGGACAAA , CM000681.2:g.11105575_11105581delinsGGACAAA	GRCh38
NC_000019.9:g.11216251_11216257delinsGGACAAA , CM000681.1:g.11216251_11216257delinsGGACAAA	GRCh37
NC_000019.8:g.11077251_11077257delinsGGACAAA	NCBI36
NG_009060.1:g.21195_21201delinsGGACAAA , LRG_274:g.21195_21201delinsGGACAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.927_933delinsGGACAAA	ENSP00000252444.6:p.Lys309=
ENST00000559340.2:c.669_675delinsGGACAAA	ENSP00000453696.2:p.Lys223=
ENST00000560467.2:c.669_675delinsGGACAAA	ENSP00000453513.2:p.Lys223=
ENST00000558518.6:c.669_675delinsGGACAAA MANE Select	ENSP00000454071.1:p.Lys223=
ENST00000252444.9:c.923_929delinsGGACAAA
ENST00000455727.6:c.314-1817_314-1811delinsGGACAAA	ENSP00000397829.2:n.314-1817_314-1811delinsGGACAAA
ENST00000535915.5:c.546_552delinsGGACAAA	ENSP00000440520.1:p.Lys182=
ENST00000545707.5:c.314-990_314-984delinsGGACAAA	ENSP00000437639.1:n.314-990_314-984delinsGGACAAA
ENST00000557933.5:c.669_675delinsGGACAAA	ENSP00000453557.1:p.Lys223=
ENST00000558013.5:c.669_675delinsGGACAAA	ENSP00000453346.1:p.Lys223=
ENST00000558518.5:c.669_675delinsGGACAAA	ENSP00000454071.1:p.Lys223=
ENST00000560467.1:c.269_275delinsGGACAAA
NM_000527.4:c.669_675delinsGGACAAA , LRG_274t1:c.669_675delinsGGACAAA	NP_000518.1:p.Lys223=
NM_001195798.1:c.669_675delinsGGACAAA	NP_001182727.1:p.Lys223=
NM_001195799.1:c.546_552delinsGGACAAA	NP_001182728.1:p.Lys182=
NM_001195800.1:c.314-1817_314-1811delinsGGACAAA	NP_001182729.1:n.314-1817_314-1811delinsGGACAAA
NM_001195803.1:c.314-990_314-984delinsGGACAAA	NP_001182732.1:n.314-990_314-984delinsGGACAAA
XM_011528010.1:c.669_675delinsGGACAAA	XP_011526312.1:p.Lys223=
XM_011528011.1:c.314-990_314-984delinsGGACAAA	XP_011526313.1:n.314-990_314-984delinsGGACAAA
XR_244074.2:n.819_825delinsGGACAAA
XM_011528010.2:c.669_675delinsGGACAAA	XP_011526312.1:p.Lys223=
XR_001753685.2:n.786_792delinsGGACAAA
XR_001753686.2:n.786_792delinsGGACAAA
NM_000527.5:c.669_675delinsGGACAAA MANE Select	NP_000518.1:p.Lys223=
NM_001195798.2:c.669_675delinsGGACAAA	NP_001182727.1:p.Lys223=
NM_001195799.2:c.546_552delinsGGACAAA	NP_001182728.1:p.Lys182=
NM_001195800.2:c.314-1817_314-1811delinsGGACAAA	NP_001182729.1:n.314-1817_314-1811delinsGGACAAA
NM_001195803.2:c.314-990_314-984delinsGGACAAA	NP_001182732.1:n.314-990_314-984delinsGGACAAA