Canonical Allele Identifier: CA2322767484

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105459_11105460delinsAG , CM000681.2:g.11105459_11105460delinsAG	GRCh38
NC_000019.9:g.11216135_11216136delinsAG , CM000681.1:g.11216135_11216136delinsAG	GRCh37
NC_000019.8:g.11077135_11077136delinsAG	NCBI36
NG_009060.1:g.21079_21080delinsAG , LRG_274:g.21079_21080delinsAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.811_812delinsAG	ENSP00000252444.6:p.Arg271=
ENST00000559340.2:c.553_554delinsAG	ENSP00000453696.2:p.Arg185=
ENST00000560467.2:c.553_554delinsAG	ENSP00000453513.2:p.Arg185=
ENST00000558518.6:c.553_554delinsAG MANE Select	ENSP00000454071.1:p.Arg185=
ENST00000252444.9:c.807_808delinsAG
ENST00000455727.6:c.314-1933_314-1932delinsAG	ENSP00000397829.2:n.314-1933_314-1932delinsAG
ENST00000535915.5:c.430_431delinsAG	ENSP00000440520.1:p.Arg144=
ENST00000545707.5:c.314-1106_314-1105delinsAG	ENSP00000437639.1:n.314-1106_314-1105delinsAG
ENST00000557933.5:c.553_554delinsAG	ENSP00000453557.1:p.Arg185=
ENST00000558013.5:c.553_554delinsAG	ENSP00000453346.1:p.Arg185=
ENST00000558518.5:c.553_554delinsAG	ENSP00000454071.1:p.Arg185=
ENST00000560467.1:c.153_154delinsAG
NM_000527.4:c.553_554delinsAG , LRG_274t1:c.553_554delinsAG	NP_000518.1:p.Arg185=
NM_001195798.1:c.553_554delinsAG	NP_001182727.1:p.Arg185=
NM_001195799.1:c.430_431delinsAG	NP_001182728.1:p.Arg144=
NM_001195800.1:c.314-1933_314-1932delinsAG	NP_001182729.1:n.314-1933_314-1932delinsAG
NM_001195803.1:c.314-1106_314-1105delinsAG	NP_001182732.1:n.314-1106_314-1105delinsAG
XM_011528010.1:c.553_554delinsAG	XP_011526312.1:p.Arg185=
XM_011528011.1:c.314-1106_314-1105delinsAG	XP_011526313.1:n.314-1106_314-1105delinsAG
XR_244074.2:n.703_704delinsAG
XM_011528010.2:c.553_554delinsAG	XP_011526312.1:p.Arg185=
XR_001753685.2:n.670_671delinsAG
XR_001753686.2:n.670_671delinsAG
NM_000527.5:c.553_554delinsAG MANE Select	NP_000518.1:p.Arg185=
NM_001195798.2:c.553_554delinsAG	NP_001182727.1:p.Arg185=
NM_001195799.2:c.430_431delinsAG	NP_001182728.1:p.Arg144=
NM_001195800.2:c.314-1933_314-1932delinsAG	NP_001182729.1:n.314-1933_314-1932delinsAG
NM_001195803.2:c.314-1106_314-1105delinsAG	NP_001182732.1:n.314-1106_314-1105delinsAG